Canonical Allele Identifier: PA2825333254
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 880034
ClinVar RCV Id: RCV001108009 RCV001593271
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Pro292Ser
CA6314285
NM_001024382.2:c.874C>T