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: PA2826741764

Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 3224688

ClinVar RCV Id: RCV004521378

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001274177.1:p.Lys960Asn	CA393851193 NM_001287248.2:c.2880G>C CA393851196 NM_001287248.2:c.2880G>T