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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:
CA1497055323
Gene:
Linked Data
dbSNP Id:
rs1728159852
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.136605411dup , CM000666.2:g.136605411dup
GRCh38
NC_000004.11:g.137526566dup , CM000666.1:g.137526566dup
GRCh37
NC_000004.10:g.137746016dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'