Canonical Allele Identifier: PA2580058828
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2580521
ClinVar RCV Id: RCV003329716
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Asp230Gly
CA382897432
NM_000190.4:c.689A>G