Canonical Allele Identifier: PA2826738898
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524781
ClinVar RCV Id: RCV000628645 RCV001030462 RCV001021691
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ala1341Val
CA7739175
NM_001287246.2:c.4022C>T