Canonical Allele Identifier: PA2580056238
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1804294
ClinVar RCV Id: RCV002469595
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Leu285Arg
CA6314250
NM_000190.4:c.854T>G