Canonical Allele Identifier: PA2826454868
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 851744
ClinVar RCV Id: RCV001056204 RCV001535464
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Ala291Val
CA6314298
NM_001258208.2:c.872C>T