ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829991084
Gene: SPHK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3169013
ClinVar RCV Id:
RCV004464892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068807.2:p.Val380Met
CA8785377
NM_021972.4:c.1138G>A