Canonical Allele Identifier: PA2826455095
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1987326
ClinVar RCV Id: RCV002775901
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Arg264Cys
CA6314293
NM_001258209.2:c.790C>T