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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:
CA2770547969
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32622874_32622879del , CM000668.2:g.32622874_32622879del
GRCh38
NC_000006.11:g.32590651_32590656del , CM000668.1:g.32590651_32590656del
GRCh37
NC_000006.10:g.32698629_32698634del
NCBI36
Search 100 bp 5'
Search 100 bp 3'