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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:
CA2189605780
Gene:
Linked Data
dbSNP Id:
rs60411449
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.78622855_78622863del , CM000677.2:g.78622855_78622863del
GRCh38
NC_000015.9:g.78915197_78915205del , CM000677.1:g.78915197_78915205del
GRCh37
NC_000015.8:g.76702252_76702260del
NCBI36
NG_016143.1:g.3440_3448del
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