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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:
CA1400179215
Gene:
Linked Data
dbSNP Id:
rs2080332484
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.127274320_127274339dup , CM000665.2:g.127274320_127274339dup
GRCh38
NC_000003.11:g.126993163_126993182dup , CM000665.1:g.126993163_126993182dup
GRCh37
NC_000003.10:g.128475853_128475872dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'