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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:
CA2060730417
Gene: CASC18
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.105714821_105714824delinsCGTT , CM000674.2:g.105714821_105714824delinsCGTT
GRCh38
NC_000012.11:g.106108599_106108602delinsCGTT , CM000674.1:g.106108599_106108602delinsCGTT
GRCh37
NC_000012.10:g.104632729_104632732delinsCGTT
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_110108.1:n.54+10565_54+10568delinsCGTT
NR_110109.1:n.55-341_55-338delinsCGTT
NR_110110.1:n.83+7965_83+7968delinsCGTT
NR_110111.1:n.83+7965_83+7968delinsCGTT
NR_110111.2:n.83+7965_83+7968delinsCGTT
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