Canonical Allele Identifier: PA658678141
Gene: BLM HGNC NCBI

Linked Data

ClinVar Variation Id: 454121
ClinVar RCV Id: RCV000541196 RCV001016575 RCV001030457 RCV001194357 RCV003153670 RCV003478099
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000048.1:p.Ile947Val
CA7738884
NM_000057.4:c.2839A>G