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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:
CA1087539697
Gene:
Linked Data
dbSNP Id:
rs1762883373
gnomAD v3:
6-32445604-A-AACACATCTTT
gnomAD v4:
6-32445604-A-AACACATCTTT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32445604_32445605insACACATCTTT , CM000668.2:g.32445604_32445605insACACATCTTT
GRCh38
NC_000006.11:g.32413381_32413382insACACATCTTT , CM000668.1:g.32413381_32413382insACACATCTTT
GRCh37
NC_000006.10:g.32521359_32521360insACACATCTTT
NCBI36
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