Canonical Allele Identifier: PA2499229576
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1010357
ClinVar RCV Id: RCV001307970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Pro309Arg
CA382899119
NM_000190.4:c.926C>G