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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:
CA2189605524
Gene:
Linked Data
dbSNP Id:
rs2053567854
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622267_78622270del , CM000677.2:g.78622267_78622270del
GRCh38
NC_000015.9:g.78914609_78914612del , CM000677.1:g.78914609_78914612del
GRCh37
NC_000015.8:g.76701664_76701667del
NCBI36
NG_016143.1:g.4028_4031del
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