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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:
CA1217209104
Gene:
Linked Data
dbSNP Id:
rs1662013842
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.195523257_195523272del , CM000663.2:g.195523257_195523272del
GRCh38
NC_000001.10:g.195492387_195492402del , CM000663.1:g.195492387_195492402del
GRCh37
NC_000001.9:g.193759010_193759025del
NCBI36
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