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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:
CA2735174367
Gene:
Linked Data
dbSNP Id:
rs2144292959
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.55996888_55996890del , CM000680.2:g.55996888_55996890del
GRCh38
NC_000018.9:g.53664119_53664121del , CM000680.1:g.53664119_53664121del
GRCh37
NC_000018.8:g.51815117_51815119del
NCBI36
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