Canonical Allele Identifier: PA251829
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1469
ClinVar RCV Id: RCV000001534 RCV002298429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Cys230Arg
CA251828
NM_001024382.2:c.688T>C