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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:
CA2695226694
Gene: NOG
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.56594858dup , CM000679.2:g.56594858dup
GRCh38
NC_000017.10:g.54672219dup , CM000679.1:g.54672219dup
GRCh37
NC_000017.9:g.52027218dup
NCBI36
NG_011958.1:g.6160dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000332822.6:c.635dup
MANE Select
ENSP00000328181.4:p.Gln213ProfsTer?
ENST00000332822.4:c.635dup
ENSP00000328181.4:p.Gln213ProfsTer?
NM_005450.4:c.635dup
NP_005441.1:p.Gln213ProfsTer?
NM_005450.6:c.635dup
MANE Select
NP_005441.1:p.Gln213ProfsTer?
Search 100 bp 5'
Search 100 bp 3'