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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:
CA1211397534
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.182199850_182199852delinsTGA , CM000663.2:g.182199850_182199852delinsTGA
GRCh38
NC_000001.10:g.182168985_182168987delinsTGA , CM000663.1:g.182168985_182168987delinsTGA
GRCh37
NC_000001.9:g.180435608_180435610delinsTGA
NCBI36
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