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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:
CA23532311
Gene:
Linked Data
dbSNP Id:
rs142037466
gnomAD v2:
1-67753402-AATT-A
gnomAD v3:
1-67287719-AATT-A
gnomAD v4:
1-67287719-AATT-A
MyVariant Identifiers:
chr1:g.67753403_67753405del (hg19)
chr1:g.67287720_67287722del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.67287722_67287724del , CM000663.2:g.67287722_67287724del
GRCh38
NC_000001.10:g.67753405_67753407del , CM000663.1:g.67753405_67753407del
GRCh37
NC_000001.9:g.67525993_67525995del
NCBI36
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