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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:
CA2599687085
Gene:
Linked Data
dbSNP Id:
rs2128989151
gnomAD v3:
8-66178955-GACA-G
gnomAD v4:
8-66178955-GACA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.66178959_66178961del , CM000670.2:g.66178959_66178961del
GRCh38
NC_000008.10:g.67091194_67091196del , CM000670.1:g.67091194_67091196del
GRCh37
NC_000008.9:g.67253748_67253750del
NCBI36
NG_016127.1:g.4506_4508del
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