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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:
CA1008299125
Gene:
Linked Data
dbSNP Id:
rs1339893481
gnomAD v3:
1-159715061-AT-A
gnomAD v4:
1-159715061-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.159715068del , CM000663.2:g.159715068del
GRCh38
NC_000001.10:g.159684858del , CM000663.1:g.159684858del
GRCh37
NC_000001.9:g.157951482del
NCBI36
NG_013007.1:g.4528del
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