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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:
CA2746993107
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.186681920dup , CM000663.2:g.186681920dup
GRCh38
NC_000001.10:g.186651052dup , CM000663.1:g.186651052dup
GRCh37
NC_000001.9:g.184917675dup
NCBI36
NG_028206.2:g.3509dup
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