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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:
CA1320971525
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.201232657_201232662delinsTTACTC , CM000664.2:g.201232657_201232662delinsTTACTC
GRCh38
NC_000002.11:g.202097380_202097385delinsTTACTC , CM000664.1:g.202097380_202097385delinsTTACTC
GRCh37
NC_000002.10:g.201805625_201805630delinsTTACTC
NCBI36
NG_007497.1:g.4200_4205delinsTTACTC , LRG_34:g.4200_4205delinsTTACTC
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