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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
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Canonical Allele Identifier:
CA2078706941
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.23468325_23468340delinsCAATCTGTTTCTTCTA , CM000675.2:g.23468325_23468340delinsCAATCTGTTTCTTCTA
GRCh38
NC_000013.10:g.24042464_24042479delinsCAATCTGTTTCTTCTA , CM000675.1:g.24042464_24042479delinsCAATCTGTTTCTTCTA
GRCh37
NC_000013.9:g.22940464_22940479delinsCAATCTGTTTCTTCTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'