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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:
CA1087539772
Gene:
Linked Data
dbSNP Id:
rs2150379740
gnomAD v3:
6-32445716-ACT-A
gnomAD v4:
6-32445716-ACT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32445717_32445718del , CM000668.2:g.32445717_32445718del
GRCh38
NC_000006.11:g.32413494_32413495del , CM000668.1:g.32413494_32413495del
GRCh37
NC_000006.10:g.32521472_32521473del
NCBI36
Search 100 bp 5'
Search 100 bp 3'