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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:
CA1769118476
Gene:
Linked Data
dbSNP Id:
rs2070111855
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.19968798_19968801del , CM000670.2:g.19968798_19968801del
GRCh38
NC_000008.10:g.19826309_19826312del , CM000670.1:g.19826309_19826312del
GRCh37
NC_000008.9:g.19870589_19870592del
NCBI36
NG_008855.1:g.34728_34731del
NG_008855.2:g.72082_72085del
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