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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:
CA2663621608
Gene: CHRNG
HGNC
NCBI
Linked Data
gnomAD v4:
2-232539990-A-AG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.232539994dup , CM000664.2:g.232539994dup
GRCh38
NC_000002.11:g.233404704dup , CM000664.1:g.233404704dup
GRCh37
NC_000002.10:g.233112948dup
NCBI36
NG_012954.1:g.5268dup
NG_012954.2:g.5303dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000651502.1:c.58dup
ENST00000389492.3:c.58dup
ENST00000389494.7:c.58dup
ENST00000485094.1:n.79dup
NM_005199.4:c.58dup
NM_005199.5:c.58dup
Search 100 bp 5'
Search 100 bp 3'