Canonical Allele Identifier: PA2826978662
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Trp211Cys
CA379370454
NM_001318087.2:c.633G>C
CA379370456
NM_001318087.2:c.633G>T