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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:
CA1471798757
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.81223709_81223720delinsGGACATTAATCT , CM000666.2:g.81223709_81223720delinsGGACATTAATCT
GRCh38
NC_000004.11:g.82144863_82144874delinsGGACATTAATCT , CM000666.1:g.82144863_82144874delinsGGACATTAATCT
GRCh37
NC_000004.10:g.82363887_82363898delinsGGACATTAATCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'