ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828760460
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_001365372.1:p.Lys507_Gly508del
CA2577269641
NM_001378443.1:c.1520_1525del