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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2513365626
Gene: CASKP1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.12946661del , CM000686.2:g.12946661del
GRCh38
NC_000024.9:g.15058569del , CM000686.1:g.15058569del
GRCh37
NC_000024.8:g.13567963del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000412870.1:n.188-353del
Search 100 bp 5'
Search 100 bp 3'