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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:
CA2216867350
Gene:
Linked Data
dbSNP Id:
rs2057342470
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.31099726_31099729del , CM000678.2:g.31099726_31099729del
GRCh38
NC_000016.9:g.31111047_31111050del , CM000678.1:g.31111047_31111050del
GRCh37
NC_000016.8:g.31018548_31018551del
NCBI36
NG_011564.1:g.234_237del
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