ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580532139
Gene: SPPL2C
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004154293
ClinVar Variation:
2301952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787078.2:p.Ile291Phe
CA399894900
NM_175882.3:c.871A>T