Canonical Allele Identifier: PA2826741254
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 524813
ClinVar RCV Id: RCV000628681 RCV001015940 RCV003478339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001274177.1:p.Ser479Asn
CA7738822
NM_001287248.2:c.1436G>A