Canonical Allele Identifier: PA2580058111
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Glu210Asp
CA382896713
NM_000190.4:c.630A>C
CA382896715
NM_000190.4:c.630A>T