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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:
CA1696282971
Gene:
Linked Data
dbSNP Id:
rs1783881104
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27298260_27298263del , CM000669.2:g.27298260_27298263del
GRCh38
NC_000007.13:g.27337879_27337882del , CM000669.1:g.27337879_27337882del
GRCh37
NC_000007.12:g.27304404_27304407del
NCBI36
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