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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:
CA566343581
Gene:
Linked Data
dbSNP Id:
rs1190867877
gnomAD v2:
6-31391284-AGGACACAGAC-A
gnomAD v3:
6-31423507-AGGACACAGAC-A
gnomAD v4:
6-31423507-AGGACACAGAC-A
MyVariant Identifiers:
chr6:g.31391285_31391294del (hg19)
chr6:g.31423508_31423517del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.31423508_31423517del , CM000668.2:g.31423508_31423517del
GRCh38
NC_000006.11:g.31391285_31391294del , CM000668.1:g.31391285_31391294del
GRCh37
NC_000006.10:g.31499264_31499273del
NCBI36
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