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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:
CA2716239622
Gene:
Linked Data
dbSNP Id:
rs2128896357
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000008.11:g.2883019G>A , CM000670.2:g.2883019G>A
GRCh38
NC_000008.10:g.2740541G>A , CM000670.1:g.2740541G>A
GRCh37
NC_000008.9:g.2727948G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_941367.1:n.212-42746G>A
NR_168441.1:n.1166+45255G>A
NR_168442.1:n.1331-33316G>A
NR_168443.1:n.1171+45255G>A
NR_168444.1:n.1166+45255G>A
NR_168445.1:n.1249+45172G>A
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