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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA397135339
Gene: CDH15
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.89245966C>T (hg19)
chr16:g.89179558C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.89179558C>T , CM000678.2:g.89179558C>T
GRCh38
NC_000016.9:g.89245966C>T , CM000678.1:g.89245966C>T
GRCh37
NC_000016.8:g.87773467C>T
NCBI36
NG_012055.1:g.12804C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000289746.3:c.185C>T
MANE Select
ENSP00000289746.2:p.Pro62Leu
ENST00000289746.2:c.185C>T
ENSP00000289746.2:p.Pro62Leu
ENST00000521087.5:n.250C>T
ENST00000524089.1:n.250C>T
NM_004933.2:c.185C>T
NP_004924.1:p.Pro62Leu
XM_011522806.1:c.185C>T
XP_011521108.1:p.Pro62Leu
NM_004933.3:c.185C>T
MANE Select
NP_004924.1:p.Pro62Leu
Search 100 bp 5'
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