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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:
CA450834616
Gene:
Linked Data
dbSNP Id:
rs1438126785
gnomAD v2:
6-72115535-T-TA
gnomAD v3:
6-71405832-T-TA
gnomAD v4:
6-71405832-T-TA
MyVariant Identifiers:
chr6:g.72115535_72115536insA (hg19)
chr6:g.71405832_71405833insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.71405838dup , CM000668.2:g.71405838dup
GRCh38
NC_000006.11:g.72115541dup , CM000668.1:g.72115541dup
GRCh37
NC_000006.10:g.72172262dup
NCBI36
Search 100 bp 5'
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