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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:
CA760863185
Gene:
Linked Data
dbSNP Id:
rs1287928703
gnomAD v3:
2-173462187-C-CT
gnomAD v4:
2-173462187-C-CT
MyVariant Identifiers:
chr2:g.174326915_174326916insT (hg19)
chr2:g.173462187_173462188insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.173462187_173462188insT , CM000664.2:g.173462187_173462188insT
GRCh38
NC_000002.11:g.174326915_174326916insT , CM000664.1:g.174326915_174326916insT
GRCh37
NC_000002.10:g.174035161_174035162insT
NCBI36
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