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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:
CA683048524
Gene: CASC18
HGNC
NCBI
Linked Data
dbSNP Id:
rs1470052681
gnomAD v3:
12-105714821-CGTT-C
gnomAD v4:
12-105714821-CGTT-C
MyVariant Identifiers:
chr12:g.106108600_106108602del (hg19)
chr12:g.105714822_105714824del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.105714824_105714826del , CM000674.2:g.105714824_105714826del
GRCh38
NC_000012.11:g.106108602_106108604del , CM000674.1:g.106108602_106108604del
GRCh37
NC_000012.10:g.104632732_104632734del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
NR_110108.1:n.54+10568_54+10570del
NR_110109.1:n.55-338_55-336del
NR_110110.1:n.83+7968_83+7970del
NR_110111.1:n.83+7968_83+7970del
NR_110111.2:n.83+7968_83+7970del
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