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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:
CA772592947
Gene:
Linked Data
dbSNP Id:
rs1366262567
gnomAD v3:
17-47748075-TG-T
gnomAD v4:
17-47748075-TG-T
MyVariant Identifiers:
chr17:g.45825442del (hg19)
chr17:g.47748076del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.47748078del , CM000679.2:g.47748078del
GRCh38
NC_000017.10:g.45825444del , CM000679.1:g.45825444del
GRCh37
NC_000017.9:g.43180443del
NCBI36
NG_012166.1:g.19835del
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