Canonical Allele Identifier: PA2580058592
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2895844
ClinVar RCV Id: RCV003730598

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Asp289Ala
CA382898812
NM_000190.4:c.866A>C