ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916022232
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197160
ClinVar RCV Id:
RCV000178119
RCV001852206
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305016.1:p.His427Leu
CA245141
NM_001318087.2:c.1280A>T