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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:
CA2307281196
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.60215460_60215463delinsCAAA , CM000680.2:g.60215460_60215463delinsCAAA
GRCh38
NC_000018.9:g.57882693_57882696delinsCAAA , CM000680.1:g.57882693_57882696delinsCAAA
GRCh37
NC_000018.8:g.56033673_56033676delinsCAAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'