ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580532147
Gene: SPPL2C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004102809
ClinVar Variation:
2238817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787078.2:p.Ala479Ser
CA399896247
NM_175882.3:c.1435G>T