ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830357134
Gene: SPPL2C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004465223
ClinVar Variation:
3169344
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787078.2:p.Arg428Gln
CA8617308
NM_175882.3:c.1283G>A