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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
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Canonical Allele Identifier:
CA1602103246
Gene: NSG2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221485_174221495delinsTCCCTGCCCCA , CM000667.2:g.174221485_174221495delinsTCCCTGCCCCA
GRCh38
NC_000005.9:g.173648488_173648498delinsTCCCTGCCCCA , CM000667.1:g.173648488_173648498delinsTCCCTGCCCCA
GRCh37
NC_000005.8:g.173581094_173581104delinsTCCCTGCCCCA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000521585.5:c.*18+16181_*18+16191delinsTCCCTGCCCCA
ENSP00000429863.1:n.*18+16181_*18+16191delinsTCCCTGCCCCA
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