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: PA2499245918

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1043996

ClinVar RCV Id: RCV001348184 RCV003169705

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Glu660Gln	CA7738940 NM_001287248.2:c.1978G>C