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: PA2826739740

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 576518

ClinVar RCV Id: RCV000699029 RCV001018166 RCV002269304

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274176.1:p.Asp1010Val	CA393846671 NM_001287247.2:c.3029A>T