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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:
CA2570975234
Gene: CASC8
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127472786_127472788del , CM000670.2:g.127472786_127472788del
GRCh38
NC_000008.10:g.128485031_128485033del , CM000670.1:g.128485031_128485033del
GRCh37
NC_000008.9:g.128554213_128554215del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_024393.1:n.1041+6295_1041+6297del
NR_117100.1:n.1041+6295_1041+6297del
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