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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:
CA2663247695
Gene:
Linked Data
gnomAD v4:
2-219418312-CAGGGG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.219418321_219418325del , CM000664.2:g.219418321_219418325del
GRCh38
NC_000002.11:g.220283043_220283047del , CM000664.1:g.220283043_220283047del
GRCh37
NC_000002.10:g.219991287_219991291del
NCBI36
NG_008043.1:g.4945_4949del , LRG_380:g.4945_4949del
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