Canonical Allele Identifier: PA2825333165
Gene: HMBS HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001019553.1:p.Gln187His
CA382895027
NM_001024382.2:c.561G>C
CA382895036
NM_001024382.2:c.561G>T