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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:
CA1677170017
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668692_160668694delinsTGG , CM000668.2:g.160668692_160668694delinsTGG
GRCh38
NC_000006.11:g.161089724_161089726delinsTGG , CM000668.1:g.161089724_161089726delinsTGG
GRCh37
NC_000006.10:g.161009714_161009716delinsTGG
NCBI36
NG_016147.1:g.2682_2684delinsCCA
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2321_115-2319delinsCCA
Search 100 bp 5'
Search 100 bp 3'