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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:
CA2525166044
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.25902227_25902228insCTTCTGCT , CM000667.2:g.25902227_25902228insCTTCTGCT
GRCh38
NC_000005.9:g.25902336_25902337insCTTCTGCT , CM000667.1:g.25902336_25902337insCTTCTGCT
GRCh37
NC_000005.8:g.25938093_25938094insCTTCTGCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'