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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:
CA552212029
Gene:
Linked Data
dbSNP Id:
rs1235088877
gnomAD v2:
4-69858934-A-AAT
gnomAD v3:
4-68993216-A-AAT
gnomAD v4:
4-68993216-A-AAT
MyVariant Identifiers:
chr4:g.69858934_69858935insAT (hg19)
chr4:g.68993216_68993217insAT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.68993219_68993220dup , CM000666.2:g.68993219_68993220dup
GRCh38
NC_000004.11:g.69858937_69858938dup , CM000666.1:g.69858937_69858938dup
GRCh37
NC_000004.10:g.69893526_69893527dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'