Canonical Allele Identifier: PA2826455044
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2137264
ClinVar RCV Id: RCV003062464

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Glu192Lys
CA229596005
NM_001258209.2:c.574G>A