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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:
CA1254790560
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.60272966_60272967delinsCT , CM000664.2:g.60272966_60272967delinsCT
GRCh38
NC_000002.11:g.60500101_60500102delinsCT , CM000664.1:g.60500101_60500102delinsCT
GRCh37
NC_000002.10:g.60353605_60353606delinsCT
NCBI36
Search 100 bp 5'
Search 100 bp 3'