Canonical Allele Identifier: PA2826738231
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 3224378
ClinVar RCV Id: RCV004519104
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Val1027Leu
CA393846784
NM_001287246.2:c.3079G>C
CA393846785
NM_001287246.2:c.3079G>T