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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:
CA1317132836
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192877506_192877510delinsATGTG , CM000664.2:g.192877506_192877510delinsATGTG
GRCh38
NC_000002.11:g.193742232_193742236delinsATGTG , CM000664.1:g.193742232_193742236delinsATGTG
GRCh37
NC_000002.10:g.193450477_193450481delinsATGTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'