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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:
CA1602103173
Gene: NSG2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.174221361_174221363delinsCTG , CM000667.2:g.174221361_174221363delinsCTG
GRCh38
NC_000005.9:g.173648364_173648366delinsCTG , CM000667.1:g.173648364_173648366delinsCTG
GRCh37
NC_000005.8:g.173580970_173580972delinsCTG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000521585.5:c.*18+16057_*18+16059delinsCTG
ENSP00000429863.1:n.*18+16057_*18+16059delinsCTG
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