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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:
CA34082612
Gene:
Linked Data
dbSNP Id:
rs965077792
gnomAD v2:
1-186650874-TATAC-T
gnomAD v3:
1-186681742-TATAC-T
gnomAD v4:
1-186681742-TATAC-T
MyVariant Identifiers:
chr1:g.186650875_186650878del (hg19)
chr1:g.186681743_186681746del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681744_186681747del , CM000663.2:g.186681744_186681747del
GRCh38
NC_000001.10:g.186650876_186650879del , CM000663.1:g.186650876_186650879del
GRCh37
NC_000001.9:g.184917499_184917502del
NCBI36
NG_028206.2:g.3682_3685del
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