Canonical Allele Identifier: PA2826455096
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 161250
ClinVar RCV Id: RCV000148508 RCV000730694
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Arg264His
CA272874
NM_001258209.2:c.791G>A