Canonical Allele Identifier: PA103028
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1473
ClinVar RCV Id: RCV000001538

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Ala252Val
CA251834
NM_000190.4:c.755C>T