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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:
CA1264999441
Gene:
Linked Data
dbSNP Id:
rs1674197703
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.81645799del , CM000664.2:g.81645799del
GRCh38
NC_000002.11:g.81872923del , CM000664.1:g.81872923del
GRCh37
NC_000002.10:g.81726434del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940294.1:n.563+66190del
XR_940295.1:n.485+97052del
XR_001739571.1:n.485+97052del
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Search 100 bp 3'