ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573072078
Gene: CASK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1315450
ClinVar RCV Id:
RCV001774700
RCV002540606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354650.1:p.Ile834Thr
CA412989971
NM_001367721.1:c.2501T>C