Canonical Allele Identifier: PA103626
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1450
ClinVar RCV Id: RCV000001515
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Leu245Arg
CA251804
NM_000190.4:c.734T>G