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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:
CA2514112245
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668688_160668696del , CM000668.2:g.160668688_160668696del
GRCh38
NC_000006.11:g.161089720_161089728del , CM000668.1:g.161089720_161089728del
GRCh37
NC_000006.10:g.161009710_161009718del
NCBI36
NG_016147.1:g.2680_2688del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2323_115-2315del
Search 100 bp 5'
Search 100 bp 3'