Canonical Allele Identifier: PA2826738270
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 136516
ClinVar RCV Id: RCV000123849 RCV000230670 RCV000572905 RCV001800416
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274175.1:p.Ala1043Asp
CA289703
NM_001287246.2:c.3128C>A