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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:
CA933503602
Gene: EEF1AKMT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1950248483
gnomAD v3:
10-124749435-TAAGAG-T
gnomAD v4:
10-124749435-TAAGAG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124749440_124749444del , CM000672.2:g.124749440_124749444del
GRCh38
NC_000010.10:g.126438009_126438013del , CM000672.1:g.126438009_126438013del
GRCh37
NC_000010.9:g.126427999_126428003del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000494792.1:c.628+10946_628+10950del
ENST00000495711.2:c.187-954_187-950del
Search 100 bp 5'
Search 100 bp 3'