Canonical Allele Identifier: PA658812380
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 510995
ClinVar RCV Id: RCV000605528 RCV001102686 RCV001860291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245137.1:p.Ala9Glu
CA6313828
NM_001258208.2:c.26C>A