Canonical Allele Identifier: PA2580058699
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gln229His
CA382897399
NM_000190.4:c.687G>C
CA382897404
NM_000190.4:c.687G>T