ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825593249
Gene: CASK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2825882
ClinVar RCV Id:
RCV003625430
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119527.1:p.Thr56Ala
CA413000659
NM_001126055.2:c.166A>G