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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:
CA2100532398
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.70675411_70675430delinsTTATATATATATATATTTTA , CM000675.2:g.70675411_70675430delinsTTATATATATATATATTTTA
GRCh38
NC_000013.10:g.71249543_71249562delinsTTATATATATATATATTTTA , CM000675.1:g.71249543_71249562delinsTTATATATATATATATTTTA
GRCh37
NC_000013.9:g.70147544_70147563delinsTTATATATATATATATTTTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'