Canonical Allele Identifier: PA103303
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1469
ClinVar RCV Id: RCV000001534 RCV002298429
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Cys247Arg
CA251828
NM_000190.4:c.739T>C