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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:
CA2377870415
Gene:
Linked Data
dbSNP Id:
rs1986125978
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000021.9:g.14472489del , CM000683.2:g.14472489del
GRCh38
NC_000021.8:g.15844810del , CM000683.1:g.15844810del
GRCh37
NC_000021.7:g.14766681del
NCBI36
Search 100 bp 5'
Search 100 bp 3'