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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
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Canonical Allele Identifier:
CA2060730398
Gene: CASC18
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.105714779_105714781delinsCTT , CM000674.2:g.105714779_105714781delinsCTT
GRCh38
NC_000012.11:g.106108557_106108559delinsCTT , CM000674.1:g.106108557_106108559delinsCTT
GRCh37
NC_000012.10:g.104632687_104632689delinsCTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110108.1:n.54+10523_54+10525delinsCTT
NR_110109.1:n.55-383_55-381delinsCTT
NR_110110.1:n.83+7923_83+7925delinsCTT
NR_110111.1:n.83+7923_83+7925delinsCTT
NR_110111.2:n.83+7923_83+7925delinsCTT
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