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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:
CA1275004982
Gene:
Linked Data
dbSNP Id:
rs2098611131
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.101897717del , CM000664.2:g.101897717del
GRCh38
NC_000002.11:g.102514179del , CM000664.1:g.102514179del
GRCh37
NC_000002.10:g.101880611del
NCBI36
Search 100 bp 5'
Search 100 bp 3'