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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:
CA1329209694
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219418312_219418314delinsCAG , CM000664.2:g.219418312_219418314delinsCAG
GRCh38
NC_000002.11:g.220283034_220283036delinsCAG , CM000664.1:g.220283034_220283036delinsCAG
GRCh37
NC_000002.10:g.219991278_219991280delinsCAG
NCBI36
NG_008043.1:g.4936_4938delinsCAG , LRG_380:g.4936_4938delinsCAG
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