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: PA2830087640

Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305178

ClinVar RCV Id: RCV000335926 RCV000399378 RCV000866662 RCV001089069 RCV002365352

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_116056.3:p.Gly211Arg	CA6053444 NM_032667.6:c.631G>A CA380962073 NM_032667.6:c.631G>C