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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:
CA2082579166
Gene: FRY
HGNC
NCBI
EEF1DP3
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.31872638_31872639delinsTC , CM000675.2:g.31872638_31872639delinsTC
GRCh38
NC_000013.10:g.32446775_32446776delinsTC , CM000675.1:g.32446775_32446776delinsTC
GRCh37
NC_000013.9:g.31344775_31344776delinsTC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645780.1:c.-254+25699_-254+25700delinsTC
(FRY)
ENSP00000494080.1:n.-254+25699_-254+25700delinsTC
ENST00000428783.1:n.99+25699_99+25700delinsTC
(EEF1DP3)
NR_027062.1:n.157+25699_157+25700delinsTC
(EEF1DP3)
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