Canonical Allele Identifier: PA645470654
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_001245137.1:p.Gly216Asp
CA251838
NM_001258208.2:c.647G>A