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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:
CA579024334
Gene:
Linked Data
dbSNP Id:
rs11427192
gnomAD v2:
7-155837203-T-TAAAAAAAAAAAAAAAA
gnomAD v3:
7-156044509-T-TAAAAAAAAAAAAAAAA
gnomAD v4:
7-156044509-T-TAAAAAAAAAAAAAAAA
MyVariant Identifiers:
chr7:g.155837203_155837204insAAAAAAAAAAAAAAAA (hg19)
chr7:g.156044509_156044510insAAAAAAAAAAAAAAAA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.156044511_156044526dup , CM000669.2:g.156044511_156044526dup
GRCh38
NC_000007.13:g.155837205_155837220dup , CM000669.1:g.155837205_155837220dup
GRCh37
NC_000007.12:g.155529966_155529981dup
NCBI36
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