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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:
CA951438425
Gene: CASC18
HGNC
NCBI
Linked Data
dbSNP Id:
rs1869967883
gnomAD v3:
12-105714779-CTT-C
gnomAD v4:
12-105714779-CTT-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.105714782_105714783del , CM000674.2:g.105714782_105714783del
GRCh38
NC_000012.11:g.106108560_106108561del , CM000674.1:g.106108560_106108561del
GRCh37
NC_000012.10:g.104632690_104632691del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110108.1:n.54+10526_54+10527del
NR_110109.1:n.55-380_55-379del
NR_110110.1:n.83+7926_83+7927del
NR_110111.1:n.83+7926_83+7927del
NR_110111.2:n.83+7926_83+7927del
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