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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:
CA2160347219
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551475_103551478delinsCGGA , CM000676.2:g.103551475_103551478delinsCGGA
GRCh38
NC_000014.8:g.104017812_104017815delinsCGGA , CM000676.1:g.104017812_104017815delinsCGGA
GRCh37
NC_000014.7:g.103087565_103087568delinsCGGA
NCBI36
Search 100 bp 5'
Search 100 bp 3'