Canonical Allele Identifier: PA2826738891
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 2012679
ClinVar RCV Id: RCV002843292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Lys1338Asn
CA393851257
NM_001287246.2:c.4014G>C
CA393851259
NM_001287246.2:c.4014G>T