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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:
CA1394019194
Gene:
Linked Data
dbSNP Id:
rs1937778426
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.112778906dup , CM000665.2:g.112778906dup
GRCh38
NC_000003.11:g.112497753dup , CM000665.1:g.112497753dup
GRCh37
NC_000003.10:g.113980443dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'