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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:
CA351012057
Gene: CHRNG
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.233407712T>A (hg19)
chr2:g.232543002T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.232543002T>A , CM000664.2:g.232543002T>A
GRCh38
NC_000002.11:g.233407712T>A , CM000664.1:g.233407712T>A
GRCh37
NC_000002.10:g.233115956T>A
NCBI36
NG_012954.1:g.8276T>A
NG_012954.2:g.8311T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000651502.1:c.725T>A
MANE Select
ENSP00000498757.1:p.Leu242His
ENST00000389492.3:c.569T>A
ENSP00000374143.3:p.Leu190His
ENST00000389494.7:c.725T>A
ENSP00000374145.3:p.Leu242His
NM_005199.4:c.725T>A
NP_005190.4:p.Leu242His
NM_005199.5:c.725T>A
MANE Select
NP_005190.4:p.Leu242His
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