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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:
CA2053294080
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.88905833_88905834delinsTA , CM000674.2:g.88905833_88905834delinsTA
GRCh38
NC_000012.11:g.89299610_89299611delinsTA , CM000674.1:g.89299610_89299611delinsTA
GRCh37
NC_000012.10:g.87823741_87823742delinsTA
NCBI36
Search 100 bp 5'
Search 100 bp 3'