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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:
CA1287733031
Gene:
Linked Data
dbSNP Id:
rs1679835488
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.129236610del , CM000664.2:g.129236610del
GRCh38
NC_000002.11:g.129994183del , CM000664.1:g.129994183del
GRCh37
NC_000002.10:g.129710653del
NCBI36
Search 100 bp 5'
Search 100 bp 3'