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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:
CA2605767207
Gene:
Linked Data
gnomAD v3:
6-160668706-GGTGTTGGTGA-G
gnomAD v4:
6-160668706-GGTGTTGGTGA-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160668707_160668716del , CM000668.2:g.160668707_160668716del
GRCh38
NC_000006.11:g.161089739_161089748del , CM000668.1:g.161089739_161089748del
GRCh37
NC_000006.10:g.161009729_161009738del
NCBI36
NG_016147.1:g.2660_2669del
Transcript Alleles
HGVS
Amino-acid change
ENST00000452651.1:n.115-2343_115-2334del
Search 100 bp 5'
Search 100 bp 3'