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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:
CA2116527720
Gene:
Linked Data
dbSNP Id:
rs1879702908
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545804dup , CM000675.2:g.105545804dup
GRCh38
NC_000013.10:g.106198153dup , CM000675.1:g.106198153dup
GRCh37
NC_000013.9:g.104996154dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'