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: PA2573078582

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 849353

ClinVar RCV Id: RCV001053294

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001372957.1:p.Leu287Phe	CA380961914 NM_001386028.1:c.859C>T