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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:
CA2638880919
Gene: NOG
HGNC
NCBI
Linked Data
gnomAD v4:
17-56594234-G-GC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.56594238dup , CM000679.2:g.56594238dup
GRCh38
NC_000017.10:g.54671599dup , CM000679.1:g.54671599dup
GRCh37
NC_000017.9:g.52026598dup
NCBI36
NG_011958.1:g.5540dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000332822.6:c.15dup
MANE Select
ENSP00000328181.4:p.Ser6GlnfsTer?
ENST00000332822.4:c.15dup
ENSP00000328181.4:p.Ser6GlnfsTer?
NM_005450.4:c.15dup
NP_005441.1:p.Ser6GlnfsTer?
NM_005450.6:c.15dup
MANE Select
NP_005441.1:p.Ser6GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'