Canonical Allele Identifier: PA103470
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1464
ClinVar RCV Id: RCV000001529 RCV001381874
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gly111Arg
CA251822
NM_000190.4:c.331G>A
CA382891087
NM_000190.4:c.331G>C