Canonical Allele Identifier: PA2826455048
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2735770
ClinVar RCV Id: RCV003557676

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Val198Met
CA382896822
NM_001258209.2:c.592G>A