Canonical Allele Identifier: PA658825368
Gene: SMPD1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000534.3:p.Tyr500His
CA5852922
NM_000543.5:c.1498T>C
CA217302571
NM_000543.5:c.1497_1498delinsAC