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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:
CA658475731
Gene:
Linked Data
COSMIC:
COSN1085287
COSN1085288
COSN1085289
COSN1085290
COSN1085291
COSN1085292
COSN1085293
COSN1085294
COSN1085295
COSN1085296
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Genomic Alleles
HGVS
Genome Assembly
NC_012920.1:m.5801T>C , J01415.2:m.5801T>C
GRCh38
Search 100 bp 5'
Search 100 bp 3'