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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:
CA248884400
Gene: COG6
HGNC
NCBI
Linked Data
dbSNP Id:
rs546981745
gnomAD v3:
13-39776604-G-A
gnomAD v4:
13-39776604-G-A
MyVariant Identifiers:
chr13:g.40350741G>A (hg19)
chr13:g.39776604G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.39776604G>A , CM000675.2:g.39776604G>A
GRCh38
NC_000013.10:g.40350741G>A , CM000675.1:g.40350741G>A
GRCh37
NC_000013.9:g.39248741G>A
NCBI36
NG_028352.1:g.125978G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000416691.5:c.1827-11731G>A
ENSP00000403733.1:n.1827-11731G>A
NM_001145079.1:c.1827-11731G>A
NP_001138551.1:n.1827-11731G>A
NM_001145079.2:c.1827-11731G>A
NP_001138551.1:n.1827-11731G>A
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