×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA1942505708
Gene: EEF1AKMT2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1950248438
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.124749427del , CM000672.2:g.124749427del
GRCh38
NC_000010.10:g.126437996del , CM000672.1:g.126437996del
GRCh37
NC_000010.9:g.126427986del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000494792.1:c.628+10959del
ENST00000495711.2:c.187-941del
Search 100 bp 5'
Search 100 bp 3'