ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573293433
Gene: SPPL2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500574
ClinVar RCV Id:
RCV002015755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116191.2:p.Ser8Phe
CA392462387
NM_032802.4:c.23C>T