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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:
CA1173992183
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.69424033_69424034delinsCT , CM000663.2:g.69424033_69424034delinsCT
GRCh38
NC_000001.10:g.69889716_69889717delinsCT , CM000663.1:g.69889716_69889717delinsCT
GRCh37
NC_000001.9:g.69662304_69662305delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'