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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:
CA1320971528
Gene:
Linked Data
dbSNP Id:
rs1945888807
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.201232662_201232663dup , CM000664.2:g.201232662_201232663dup
GRCh38
NC_000002.11:g.202097385_202097386dup , CM000664.1:g.202097385_202097386dup
GRCh37
NC_000002.10:g.201805630_201805631dup
NCBI36
NG_007497.1:g.4205_4206dup , LRG_34:g.4205_4206dup
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