Canonical Allele Identifier: PA103105
Gene: HMBS HGNC NCBI
ClinVar RCV:
RCV000001514
ClinVar Variation:
1449
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Arg149Gln
CA251802
NM_000190.4:c.446G>A