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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:
CA2517125354
Gene:
Linked Data
dbSNP Id:
rs2143979131
gnomAD v3:
18-4773123-CTG-C
gnomAD v4:
18-4773123-CTG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.4773125_4773126del , CM000680.2:g.4773125_4773126del
GRCh38
NC_000018.9:g.4773124_4773125del , CM000680.1:g.4773124_4773125del
GRCh37
NC_000018.8:g.4763124_4763125del
NCBI36
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