Canonical Allele Identifier: PA2499245935
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 1195931
ClinVar RCV Id: RCV001559217
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Asp941His
CA393850811
NM_001287248.2:c.2821G>C