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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:
CA2171253560
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.39281280_39281282delinsCAT , CM000677.2:g.39281280_39281282delinsCAT
GRCh38
NC_000015.9:g.39573481_39573483delinsCAT , CM000677.1:g.39573481_39573483delinsCAT
GRCh37
NC_000015.8:g.37360773_37360775delinsCAT
NCBI36
Search 100 bp 5'
Search 100 bp 3'