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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:
CA1191820970
Gene:
Linked Data
dbSNP Id:
rs1647671991
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.118360334_118360337del , CM000663.2:g.118360334_118360337del
GRCh38
NC_000001.10:g.118902957_118902960del , CM000663.1:g.118902957_118902960del
GRCh37
NC_000001.9:g.118704480_118704483del
NCBI36
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