ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3083956217
Gene: SPPL2C
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787078.2:p.Ile471Phe
CA399896150
NM_175882.3:c.1411A>T