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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:
CA372386083
Gene: SLURP1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr8:g.143822635T>A (hg19)
chr8:g.142741217T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.142741217T>A , CM000670.2:g.142741217T>A
GRCh38
NC_000008.10:g.143822635T>A , CM000670.1:g.143822635T>A
GRCh37
NC_000008.9:g.143819637T>A
NCBI36
NG_011494.1:g.6195A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000246515.2:c.238A>T
MANE Select
ENSP00000246515.1:p.Thr80Ser
ENST00000246515.1:c.238A>T
ENSP00000246515.1:p.Thr80Ser
NM_020427.2:c.238A>T
NP_065160.1:p.Thr80Ser
NM_020427.3:c.238A>T
MANE Select
NP_065160.1:p.Thr80Ser
Search 100 bp 5'
Search 100 bp 3'