Canonical Allele Identifier: PA2826738897
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454147
ClinVar RCV Id: RCV000525035 RCV001021669
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Pro1340Leu
CA7739174
NM_001287246.2:c.4019C>T