Canonical Allele Identifier: PA2825333210
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 452525
ClinVar RCV Id: RCV000521233 RCV000764956
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Arg229His
CA6314167
NM_001024382.2:c.686G>A