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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:
CA1818373745
Gene: CASC8
HGNC
NCBI
Linked Data
dbSNP Id:
rs1815884726
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.127472658_127472665del , CM000670.2:g.127472658_127472665del
GRCh38
NC_000008.10:g.128484903_128484910del , CM000670.1:g.128484903_128484910del
GRCh37
NC_000008.9:g.128554085_128554092del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_024393.1:n.1041+6419_1041+6426del
NR_117100.1:n.1041+6419_1041+6426del
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