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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:
CA2002719830
Gene:
Linked Data
dbSNP Id:
rs1940040995
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116736602_116736603del , CM000673.2:g.116736602_116736603del
GRCh38
NC_000011.9:g.116607318_116607319del , CM000673.1:g.116607318_116607319del
GRCh37
NC_000011.8:g.116112528_116112529del
NCBI36
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