Canonical Allele Identifier: PA103243
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 372379
ClinVar RCV Id: RCV000413917 RCV000779045
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Asp178Asn
CA6314087
NM_000190.4:c.532G>A