ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828761547
Gene: SP110
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2582384
ClinVar RCV Id:
RCV003333365
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365376.1:p.Lys457_Gly458del
CA2577269641
NM_001378447.1:c.1370_1375del