Canonical Allele Identifier: PA2826455113
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 2129112
ClinVar RCV Id: RCV003040378
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Lys291Arg
CA6314303
NM_001258209.2:c.872A>G