Canonical Allele Identifier: PA2580054558
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Val38Leu
CA382888398
NM_000190.4:c.112G>C
CA382888406
NM_000190.4:c.112G>T