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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:
CA1563552135
Gene:
Linked Data
dbSNP Id:
rs1744565793
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.92222896dup , CM000667.2:g.92222896dup
GRCh38
NC_000005.9:g.91518713dup , CM000667.1:g.91518713dup
GRCh37
NC_000005.8:g.91554469dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948565.1:n.394+18212dup
Search 100 bp 5'
Search 100 bp 3'