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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:
CA136984573
Gene:
Linked Data
dbSNP Id:
rs386699510
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32623012_32623015delinsAGAGT , CM000668.2:g.32623012_32623015delinsAGAGT
GRCh38
NC_000006.11:g.32590789_32590792delinsAGAGT , CM000668.1:g.32590789_32590792delinsAGAGT
GRCh37
NC_000006.10:g.32698767_32698770delinsAGAGT
NCBI36
Search 100 bp 5'
Search 100 bp 3'