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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:
CA1294976067
Gene:
Linked Data
dbSNP Id:
rs1553982848
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.144602202_144602203insG , CM000664.2:g.144602202_144602203insG
GRCh38
NC_000002.11:g.145359769_145359770insG , CM000664.1:g.145359769_145359770insG
GRCh37
NC_000002.10:g.145076239_145076240insG
NCBI36
Search 100 bp 5'
Search 100 bp 3'