Canonical Allele Identifier: PA103478
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1478
ClinVar RCV Id: RCV000001543 RCV001851552
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gly216Asp
CA251838
NM_000190.4:c.647G>A