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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:
CA2168512053
Gene:
Linked Data
dbSNP Id:
rs2055074579
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.32702434A>G , CM000677.2:g.32702434A>G
GRCh38
NC_000015.9:g.32994635A>G , CM000677.1:g.32994635A>G
GRCh37
NC_000015.8:g.30781927A>G
NCBI36
Search 100 bp 5'
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