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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:
CA771943868
Gene:
Linked Data
dbSNP Id:
rs1245033881
gnomAD v3:
17-40618805-G-GT
gnomAD v4:
17-40618805-G-GT
MyVariant Identifiers:
chr17:g.38775057_38775058insT (hg19)
chr17:g.40618805_40618806insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.40618809dup , CM000679.2:g.40618809dup
GRCh38
NC_000017.10:g.38775061dup , CM000679.1:g.38775061dup
GRCh37
NC_000017.9:g.36028587dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'