Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825593120

Gene: CASK HGNC NCBI

Linked Data

ClinVar Variation Id: 424258

ClinVar RCV Id: RCV000481292

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001119526.1:p.Gly781Ser	CA16621395 NM_001126054.2:c.2341G>A