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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:
CA2638988519
Gene: RAD51C
HGNC
NCBI
Linked Data
gnomAD v4:
17-58692541-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.58692543del , CM000679.2:g.58692543del
GRCh38
NC_000017.10:g.56769904del , CM000679.1:g.56769904del
GRCh37
NC_000017.9:g.54124903del
NCBI36
NG_023199.1:g.4942del , LRG_314:g.4942del
NG_047169.1:g.4538del
Transcript Alleles
HGVS
Amino-acid change
XM_006722005.2:c.-296del
XP_006722068.1:n.-296del
XM_006722001.4:c.-101del
XP_006722064.1:n.-101del
XM_006722002.4:c.-101del
XP_006722065.1:n.-101del
XM_006722005.3:c.-296del
XP_006722068.1:n.-296del
XM_017024917.1:c.-296del
XP_016880406.1:n.-296del
XR_934513.3:n.404del
XR_934514.3:n.404del
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