Canonical Allele Identifier: PA916015842
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454060
ClinVar RCV Id: RCV000556843 RCV001017026
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274176.1:p.Ser343Ala
CA7738411
NM_001287247.2:c.1027T>G