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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:
CA1594243783
Gene:
Linked Data
dbSNP Id:
rs1758323233
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.157603149del , CM000667.2:g.157603149del
GRCh38
NC_000005.9:g.157030157del , CM000667.1:g.157030157del
GRCh37
NC_000005.8:g.156962735del
NCBI36
Search 100 bp 5'
Search 100 bp 3'