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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:
CA1181633471
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94564037_94564040delinsTCAC , CM000663.2:g.94564037_94564040delinsTCAC
GRCh38
NC_000001.10:g.95029593_95029596delinsTCAC , CM000663.1:g.95029593_95029596delinsTCAC
GRCh37
NC_000001.9:g.94802181_94802184delinsTCAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+424_461+427delinsTCAC
Search 100 bp 5'
Search 100 bp 3'