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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:
CA1498866685
Gene:
Linked Data
dbSNP Id:
rs1735954291
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.140572891G>C , CM000666.2:g.140572891G>C
GRCh38
NC_000004.11:g.141494045G>C , CM000666.1:g.141494045G>C
GRCh37
NC_000004.10:g.141713495G>C
NCBI36
NG_012139.1:g.915C>G
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