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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:
CA2580093779
Gene:
Linked Data
ClinVar Variation Id:
1713204
ClinVar RCV Id:
RCV003155999
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.43041660_43046086delinsCTGTG , CM000679.2:g.43041660_43046086delinsCTGTG
GRCh38
NC_000017.10:g.41193677_41198103delinsCTGTG , CM000679.1:g.41193677_41198103delinsCTGTG
GRCh37
NC_000017.9:g.38447203_38451629delinsCTGTG
NCBI36
NG_005905.2:g.171898_176324delinsCACAG , LRG_292:g.171898_176324delinsCACAG
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