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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:
CA2229914409
Gene:
Linked Data
dbSNP Id:
rs1962399320
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.68736942_68736944del , CM000678.2:g.68736942_68736944del
GRCh38
NC_000016.9:g.68770845_68770847del , CM000678.1:g.68770845_68770847del
GRCh37
NC_000016.8:g.67328346_67328348del
NCBI36
NG_008021.1:g.4651_4653del , LRG_301:g.4651_4653del
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