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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:
CA981532915
Gene:
Linked Data
dbSNP Id:
rs1973465254
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.12144272del , CM000679.2:g.12144272del
GRCh38
NC_000017.10:g.12047589del , CM000679.1:g.12047589del
GRCh37
NC_000017.9:g.11988314del
NCBI36
NG_033952.1:g.128455del
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