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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:
CA2229914427
Gene:
Linked Data
dbSNP Id:
rs1962399975
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736948del , CM000678.2:g.68736948del
GRCh38
NC_000016.9:g.68770851del , CM000678.1:g.68770851del
GRCh37
NC_000016.8:g.67328352del
NCBI36
NG_008021.1:g.4657del , LRG_301:g.4657del
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