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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:
CA1497354780
Gene:
Linked Data
dbSNP Id:
rs1726635030
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.137233705_137233712dup , CM000666.2:g.137233705_137233712dup
GRCh38
NC_000004.11:g.138154859_138154866dup , CM000666.1:g.138154859_138154866dup
GRCh37
NC_000004.10:g.138374309_138374316dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'