Canonical Allele Identifier: PA103599
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1466
ClinVar RCV Id: RCV000001531 RCV000795368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Leu177Arg
CA251824
NM_000190.4:c.530T>G