Canonical Allele Identifier: PA2826738832
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524764
ClinVar RCV Id: RCV000628625 RCV002358750 RCV003237958
ClinVar Variation Id: 824387
ClinVar RCV Id: RCV001021448 RCV001303467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Gly1308Arg
CA7739162
NM_001287246.2:c.3922G>A
CA393850611
NM_001287246.2:c.3922G>C