ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022261
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
754253
ClinVar RCV Id:
RCV000931568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Ser13Leu
CA5852726
NM_001318088.2:c.38C>T