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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:
CA1157412099
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.20128800_20128810delinsTGTATTTGGAG , CM000663.2:g.20128800_20128810delinsTGTATTTGGAG
GRCh38
NC_000001.10:g.20455293_20455303delinsTGTATTTGGAG , CM000663.1:g.20455293_20455303delinsTGTATTTGGAG
GRCh37
NC_000001.9:g.20327880_20327890delinsTGTATTTGGAG
NCBI36
Search 100 bp 5'
Search 100 bp 3'