Canonical Allele Identifier: PA916016468
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 236812
ClinVar RCV Id: RCV000228367 RCV001019350 RCV003237782
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Asp705Asn
CA7738972
NM_001287248.2:c.2113G>A