Canonical Allele Identifier: PA103390
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1467
ClinVar RCV Id: RCV000001532 RCV001209137
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Glu223Lys
CA251826
NM_000190.4:c.667G>A