Canonical Allele Identifier: PA916016668
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 127509
ClinVar RCV Id: RCV000115317 RCV001831903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Lys981Asn
CA287130
NM_001287248.2:c.2943G>C
CA393851553
NM_001287248.2:c.2943G>T