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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:
CA985909870
Gene:
Linked Data
gnomAD v3:
17-69961542-G-GAATC
gnomAD v4:
17-69961542-G-GAATC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.69961542_69961543insAATC , CM000679.2:g.69961542_69961543insAATC
GRCh38
NC_000017.10:g.67957683_67957684insAATC , CM000679.1:g.67957683_67957684insAATC
GRCh37
NC_000017.9:g.65469278_65469279insAATC
NCBI36
Search 100 bp 5'
Search 100 bp 3'