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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:
CA1084574569
Gene: NSG2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1755679136
gnomAD v3:
5-174221377-CAA-C
gnomAD v4:
5-174221377-CAA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221378_174221379del , CM000667.2:g.174221378_174221379del
GRCh38
NC_000005.9:g.173648381_173648382del , CM000667.1:g.173648381_173648382del
GRCh37
NC_000005.8:g.173580987_173580988del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000521585.5:c.*18+16074_*18+16075del
ENSP00000429863.1:n.*18+16074_*18+16075del
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