Canonical Allele Identifier: PA2580058226
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000181.2:p.Gln50His
CA382888603
NM_000190.4:c.150G>C
CA382888606
NM_000190.4:c.150G>T