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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:
CA1584795453
Gene:
Linked Data
dbSNP Id:
rs1752219552
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.136093335_136093337del , CM000667.2:g.136093335_136093337del
GRCh38
NC_000005.9:g.135429024_135429026del , CM000667.1:g.135429024_135429026del
GRCh37
NC_000005.8:g.135456923_135456925del
NCBI36
Search 100 bp 5'
Search 100 bp 3'