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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:
CA2541693205
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668695_160668701del , CM000668.2:g.160668695_160668701del
GRCh38
NC_000006.11:g.161089727_161089733del , CM000668.1:g.161089727_161089733del
GRCh37
NC_000006.10:g.161009717_161009723del
NCBI36
NG_016147.1:g.2675_2681del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2328_115-2322del
Search 100 bp 5'
Search 100 bp 3'