Canonical Allele Identifier: PA2580055941
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2129112
ClinVar RCV Id: RCV003040378
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Lys348Arg
CA6314303
NM_000190.4:c.1043A>G