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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:
CA117709571
Gene:
Linked Data
dbSNP Id:
rs71606580
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.40414893dup , CM000667.2:g.40414893dup
GRCh38
NC_000005.9:g.40414995dup , CM000667.1:g.40414995dup
GRCh37
NC_000005.8:g.40450752dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'