ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2470566994
Gene: CASKP1
HGNC
NCBI
Linked Data - NCBI & NCI
dbSNP:
9785956
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12946970A>T , CM000686.2:g.12946970A>T
GRCh38
Transcript Alleles
HGVS
Amino-acid Change
ENST00000412870.1:n.188-663T>A
Search 100 bp 5'
Search 100 bp 3'