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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:
CA1548370079
Gene:
Linked Data
dbSNP Id:
rs1743565193
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.57370733_57370736dup , CM000667.2:g.57370733_57370736dup
GRCh38
NC_000005.9:g.56666560_56666563dup , CM000667.1:g.56666560_56666563dup
GRCh37
NC_000005.8:g.56702317_56702320dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'