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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:
CA1533260570
Gene:
Linked Data
dbSNP Id:
rs1739228378
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.23907493_23907494insAA , CM000667.2:g.23907493_23907494insAA
GRCh38
NC_000005.9:g.23907602_23907603insAA , CM000667.1:g.23907602_23907603insAA
GRCh37
NC_000005.8:g.23943359_23943360insAA
NCBI36
Search 100 bp 5'
Search 100 bp 3'