ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916045077
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193115
ClinVar RCV Id:
RCV000173158
RCV001242007
RCV003258676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Leu35Val
CA238623
NM_001365135.1:c.103C>G