Canonical Allele Identifier: PA2580058681
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gln275His
CA382898532
NM_000190.4:c.825A>C
CA382898534
NM_000190.4:c.825A>T