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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:
CA2483860442
Gene:
Linked Data
dbSNP Id:
rs1660028571
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.208584248del , CM000663.2:g.208584248del
GRCh38
NC_000001.10:g.208757593del , CM000663.1:g.208757593del
GRCh37
NC_000001.9:g.206824216del
NCBI36
Search 100 bp 5'
Search 100 bp 3'