Canonical Allele Identifier: PA2580058552
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Asp311Glu
CA382899147
NM_000190.4:c.933T>A
CA382899149
NM_000190.4:c.933T>G