Canonical Allele Identifier: PA645470642
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1447
ClinVar RCV Id: RCV000001512 RCV001851550 RCV003764511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Arg173Gln
CA251797
NM_001258208.2:c.518G>A