Allele Registry

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.

Canonical Allele Identifier: PA2573215716

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373094

ClinVar RCV Id: RCV001875032

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001372957.1:p.Thr285Ala	CA6053435 NM_001386028.1:c.853A>G