Canonical Allele Identifier: PA2826978933
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305016.1:p.Cys506Tyr
CA5852921
NM_001318087.2:c.1517G>A
CA217302571
NM_001318087.2:c.1517_1518delinsAC