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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:
CA1942505706
Gene: EEF1AKMT2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124749424_124749431delinsCATGACTG , CM000672.2:g.124749424_124749431delinsCATGACTG
GRCh38
NC_000010.10:g.126437993_126438000delinsCATGACTG , CM000672.1:g.126437993_126438000delinsCATGACTG
GRCh37
NC_000010.9:g.126427983_126427990delinsCATGACTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000494792.1:c.628+10955_628+10962delinsCAGTCATG
ENST00000495711.2:c.187-945_187-938delinsCAGTCATG
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