Canonical Allele Identifier: PA2826736832
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524793
ClinVar RCV Id: RCV000628658 RCV004025326
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ile366Leu
CA7738462
NM_001287246.2:c.1096A>C
CA393842299
NM_001287246.2:c.1096A>T