Canonical Allele Identifier: PA2826455070
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1939931
ClinVar RCV Id: RCV002658154
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Gly230Ser
CA6314252
NM_001258209.2:c.688G>A