ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825795754
Gene: INPP5K
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1710488
ClinVar RCV Id:
RCV002291495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001129114.1:p.Ser340Thr
CA8268313
NM_001135642.2:c.1019G>C