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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:
CA1565156301
Gene:
Linked Data
dbSNP Id:
rs1747439691
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.95827974del , CM000667.2:g.95827974del
GRCh38
NC_000005.9:g.95163678del , CM000667.1:g.95163678del
GRCh37
NC_000005.8:g.95189434del
NCBI36
Search 100 bp 5'
Search 100 bp 3'