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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:
CA1437865489
Gene:
Linked Data
dbSNP Id:
rs1714446480
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124364_10124365dup , CM000666.2:g.10124364_10124365dup
GRCh38
NC_000004.11:g.10125988_10125989dup , CM000666.1:g.10125988_10125989dup
GRCh37
NC_000004.10:g.9735086_9735087dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'