Canonical Allele Identifier: PA645471961
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1464
ClinVar RCV Id: RCV000001529 RCV001381874
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Gly94Arg
CA251822
NM_001258209.2:c.280G>A
CA382891087
NM_001258209.2:c.280G>C