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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:
CA155920157
Gene:
Linked Data
dbSNP Id:
rs386711462
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.26143281_26143285delinsGAGAG , CM000669.2:g.26143281_26143285delinsGAGAG
GRCh38
NC_000007.13:g.26182901_26182905delinsGAGAG , CM000669.1:g.26182901_26182905delinsGAGAG
GRCh37
NC_000007.12:g.26149426_26149430delinsGAGAG
NCBI36
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