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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:
CA2116527655
Gene:
Linked Data
dbSNP Id:
rs1879700098
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.105545659T>C , CM000675.2:g.105545659T>C
GRCh38
NC_000013.10:g.106198008T>C , CM000675.1:g.106198008T>C
GRCh37
NC_000013.9:g.104996009T>C
NCBI36
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