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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:
CA948686028
Gene:
Linked Data
dbSNP Id:
rs1877508302
gnomAD v3:
12-66000784-GTGTT-G
gnomAD v4:
12-66000784-GTGTT-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.66000786_66000789del , CM000674.2:g.66000786_66000789del
GRCh38
NC_000012.11:g.66394566_66394569del , CM000674.1:g.66394566_66394569del
GRCh37
NC_000012.10:g.64680833_64680836del
NCBI36
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Search 100 bp 3'