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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:
CA2705132436
Gene:
Linked Data
dbSNP Id:
rs2108821815
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.10124145_10124146dup , CM000666.2:g.10124145_10124146dup
GRCh38
NC_000004.11:g.10125769_10125770dup , CM000666.1:g.10125769_10125770dup
GRCh37
NC_000004.10:g.9734867_9734868dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'