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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:
CA1602103176
Gene: NSG2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1755678905
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221364_174221365del , CM000667.2:g.174221364_174221365del
GRCh38
NC_000005.9:g.173648367_173648368del , CM000667.1:g.173648367_173648368del
GRCh37
NC_000005.8:g.173580973_173580974del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000521585.5:c.*18+16060_*18+16061del
ENSP00000429863.1:n.*18+16060_*18+16061del
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