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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:
CA966599307
Gene:
Linked Data
dbSNP Id:
rs2040133603
gnomAD v3:
14-101008471-A-AG
gnomAD v4:
14-101008471-A-AG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.101008475dup , CM000676.2:g.101008475dup
GRCh38
NC_000014.8:g.101474812dup , CM000676.1:g.101474812dup
GRCh37
NC_000014.7:g.100544565dup
NCBI36
NG_045000.5:g.177207dup
NG_045000.6:g.177207dup
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