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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:
CA2606454024
Gene: NSG2
HGNC
NCBI
Linked Data
gnomAD v3:
5-174221496-C-CT
gnomAD v4:
5-174221496-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221499dup , CM000667.2:g.174221499dup
GRCh38
NC_000005.9:g.173648502dup , CM000667.1:g.173648502dup
GRCh37
NC_000005.8:g.173581108dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000521585.5:c.*18+16195dup
ENSP00000429863.1:n.*18+16195dup
Search 100 bp 5'
Search 100 bp 3'