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: PA2573191598

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1376907

ClinVar RCV Id: RCV001888228

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Ser328Phe	CA393842030 NM_001287247.2:c.983C>T