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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:
CA1178532527
Gene:
Linked Data
dbSNP Id:
rs1648882682
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.80012300_80012302del , CM000663.2:g.80012300_80012302del
GRCh38
NC_000001.10:g.80477985_80477987del , CM000663.1:g.80477985_80477987del
GRCh37
NC_000001.9:g.80250573_80250575del
NCBI36
Search 100 bp 5'
Search 100 bp 3'