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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:
CA2536338206
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32658433_32658488del , CM000668.2:g.32658433_32658488del
GRCh38
NC_000006.11:g.32626210_32626265del , CM000668.1:g.32626210_32626265del
GRCh37
NC_000006.10:g.32734188_32734243del
NCBI36
Search 100 bp 5'
Search 100 bp 3'