Canonical Allele Identifier: PA2825097961
Gene: HMBS HGNC NCBI
ClinVar RCV:
RCV003057512
ClinVar Variation:
2128292
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Ala9Thr
CA382985795
NM_000190.4:c.25G>A