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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:
CA2517180950
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186671464_186671467del , CM000663.2:g.186671464_186671467del
GRCh38
NC_000001.10:g.186640596_186640599del , CM000663.1:g.186640596_186640599del
GRCh37
NC_000001.9:g.184907219_184907222del
NCBI36
NG_028206.2:g.13961_13964del
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