ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830406816
Gene: SPHK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3169012
ClinVar RCV Id:
RCV004464891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892010.2:p.Val406Ile
CA401156886
NM_182965.3:c.1216G>A