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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:
CA2100532401
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675411_70675413delinsTTA , CM000675.2:g.70675411_70675413delinsTTA
GRCh38
NC_000013.10:g.71249543_71249545delinsTTA , CM000675.1:g.71249543_71249545delinsTTA
GRCh37
NC_000013.9:g.70147544_70147546delinsTTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'