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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:
CA658498409
Gene:
Linked Data
ClinVar Variation Id:
869395
ClinVar RCV Id:
RCV001089487
RCV002249675
dbSNP Id:
rs2068703521
COSMIC:
COSN1085260
COSN1085261
COSN1085262
COSN1085263
COSN1085264
COSN1085265
COSN1085266
COSN1085267
COSN1085268
COSN1085269
COSN1085270
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.7453G>A , J01415.2:m.7453G>A
GRCh38
Search 100 bp 5'
Search 100 bp 3'