Canonical Allele Identifier: PA2826455039
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001245138.1:p.Gln187His
CA382895027
NM_001258209.2:c.561G>C
CA382895036
NM_001258209.2:c.561G>T