Canonical Allele Identifier: PA103104
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1445
ClinVar RCV Id: RCV000001510 RCV001212053
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg116Trp
CA251793
NM_000190.4:c.346C>T