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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:
CA2696720178
Gene:
Linked Data
dbSNP Id:
rs2101780152
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.113761047dup , CM000663.2:g.113761047dup
GRCh38
NC_000001.10:g.114303669dup , CM000663.1:g.114303669dup
GRCh37
NC_000001.9:g.114105192dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'