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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:
CA1677170022
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668699_160668700delinsTA , CM000668.2:g.160668699_160668700delinsTA
GRCh38
NC_000006.11:g.161089731_161089732delinsTA , CM000668.1:g.161089731_161089732delinsTA
GRCh37
NC_000006.10:g.161009721_161009722delinsTA
NCBI36
NG_016147.1:g.2676_2677delinsTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2327_115-2326delinsTA
Search 100 bp 5'
Search 100 bp 3'