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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:
CA2772241390
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.95731080_95731083del , CM000668.2:g.95731080_95731083del
GRCh38
NC_000006.11:g.96178956_96178959del , CM000668.1:g.96178956_96178959del
GRCh37
NC_000006.10:g.96285677_96285680del
NCBI36
Search 100 bp 5'
Search 100 bp 3'