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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:
CA1602103191
Gene: NSG2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221377_174221379delinsCAA , CM000667.2:g.174221377_174221379delinsCAA
GRCh38
NC_000005.9:g.173648380_173648382delinsCAA , CM000667.1:g.173648380_173648382delinsCAA
GRCh37
NC_000005.8:g.173580986_173580988delinsCAA
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000521585.5:c.*18+16073_*18+16075delinsCAA
ENSP00000429863.1:n.*18+16073_*18+16075delinsCAA
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