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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:
CA2335910136
Gene: AKT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2077499757
gnomAD v4:
19-40285467-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.40285468dup , CM000681.2:g.40285468dup
GRCh38
NC_000019.9:g.40791375dup , CM000681.1:g.40791375dup
GRCh37
NC_000019.8:g.45483215dup
NCBI36
NG_012038.2:g.4891dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000578123.5:c.-105dup
ENSP00000462022.1:n.-105dup
XM_011526620.1:c.-105dup
XP_011524922.1:n.-105dup
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