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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:
CA935267394
Gene:
Linked Data
dbSNP Id:
rs1848011298
gnomAD v3:
11-13552130-C-T
gnomAD v4:
11-13552130-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.13552130C>T , CM000673.2:g.13552130C>T
GRCh38
NC_000011.9:g.13573677C>T , CM000673.1:g.13573677C>T
GRCh37
NC_000011.8:g.13530253C>T
NCBI36
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