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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:
CA2365419419
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.43665875_43665876delinsGA , CM000682.2:g.43665875_43665876delinsGA
GRCh38
NC_000020.10:g.42294515_42294516delinsGA , CM000682.1:g.42294515_42294516delinsGA
GRCh37
NC_000020.9:g.41727929_41727930delinsGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'