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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:
CA2160347220
Gene:
Linked Data
dbSNP Id:
rs2076020622
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.103551479_103551481del , CM000676.2:g.103551479_103551481del
GRCh38
NC_000014.8:g.104017816_104017818del , CM000676.1:g.104017816_104017818del
GRCh37
NC_000014.7:g.103087569_103087571del
NCBI36
Search 100 bp 5'
Search 100 bp 3'