ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825593716
Gene: CASK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001119527.1:p.Tyr699Cys
CA128780
NM_001126055.2:c.2096A>G