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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:
CA2740482181
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.169763801_169763802del , CM000665.2:g.169763801_169763802del
GRCh38
NC_000003.11:g.169481589_169481590del , CM000665.1:g.169481589_169481590del
GRCh37
NC_000003.10:g.170964283_170964284del
NCBI36
NG_016363.1:g.6260_6261del , LRG_347:g.6260_6261del
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