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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:
CA154271159
Gene:
Linked Data
dbSNP Id:
rs767439795
gnomAD v2:
7-12188522-AT-A
gnomAD v3:
7-12148896-AT-A
gnomAD v4:
7-12148896-AT-A
MyVariant Identifiers:
chr7:g.12188523del (hg19)
chr7:g.12148897del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.12148898del , CM000669.2:g.12148898del
GRCh38
NC_000007.13:g.12188524del , CM000669.1:g.12188524del
GRCh37
NC_000007.12:g.12155049del
NCBI36
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