Canonical Allele Identifier: PA645470644
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1466
ClinVar RCV Id: RCV000001531 RCV000795368
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Leu177Arg
CA251824
NM_001258208.2:c.530T>G