ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045098
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Val117Met
CA5852586
NM_001365135.1:c.349G>A