Canonical Allele Identifier: PA2826455051
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1478
ClinVar RCV Id: RCV000001543 RCV001851552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Gly199Asp
CA251838
NM_001258209.2:c.596G>A