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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:
CA1317132845
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192877524_192877526delinsCTT , CM000664.2:g.192877524_192877526delinsCTT
GRCh38
NC_000002.11:g.193742250_193742252delinsCTT , CM000664.1:g.193742250_193742252delinsCTT
GRCh37
NC_000002.10:g.193450495_193450497delinsCTT
NCBI36
Search 100 bp 5'
Search 100 bp 3'