Canonical Allele Identifier: PA103143
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1447
ClinVar RCV Id: RCV000001512 RCV001851550 RCV003764511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg173Gln
CA251797
NM_000190.4:c.518G>A