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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:
CA136959457
Gene:
Linked Data
dbSNP Id:
rs879266186
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.32602575_32602576delinsT , CM000668.2:g.32602575_32602576delinsT
GRCh38
NC_000006.11:g.32570352_32570353delinsT , CM000668.1:g.32570352_32570353delinsT
GRCh37
NC_000006.10:g.32678330_32678331delinsT
NCBI36
Search 100 bp 5'
Search 100 bp 3'