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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:
CA2041561749
Gene:
Linked Data
dbSNP Id:
rs1868291104
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.63136527_63136531del , CM000674.2:g.63136527_63136531del
GRCh38
NC_000012.11:g.63530307_63530311del , CM000674.1:g.63530307_63530311del
GRCh37
NC_000012.10:g.61816574_61816578del
NCBI36
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