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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:
CA2706347115
Gene: CCNG2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2109953844
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.77215828_77215829del , CM000666.2:g.77215828_77215829del
GRCh38
NC_000004.11:g.78136981_78136982del , CM000666.1:g.78136981_78136982del
GRCh37
NC_000004.10:g.78356005_78356006del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000497512.5:n.1675+23561_1675+23562del
ENST00000514756.1:n.101+23561_101+23562del
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