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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:
CA2671358294
Gene: DSPP
HGNC
NCBI
Linked Data
gnomAD v4:
4-87612008-T-TA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.87612009dup , CM000666.2:g.87612009dup
GRCh38
NC_000004.11:g.88533161dup , CM000666.1:g.88533161dup
GRCh37
NC_000004.10:g.88752185dup
NCBI36
NG_011595.1:g.8481dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000651931.1:c.52-96dup
MANE Select
ENSP00000498766.1:n.52-96dup
ENST00000282478.7:c.52-96dup
ENSP00000282478.7:n.52-96dup
ENST00000399271.5:c.52-96dup
ENSP00000382213.1:n.52-96dup
NM_014208.3:c.52-96dup
MANE Select
NP_055023.2:n.52-96dup
Search 100 bp 5'
Search 100 bp 3'