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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:
CA1010608094
Gene: CDC73
HGNC
NCBI
Linked Data
dbSNP Id:
rs1675455283
gnomAD v3:
1-193122022-GC-G
gnomAD v4:
1-193122022-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.193122024del , CM000663.2:g.193122024del
GRCh38
NC_000001.10:g.193091154del , CM000663.1:g.193091154del
GRCh37
NC_000001.9:g.191357777del
NCBI36
NG_012691.1:g.5067del , LRG_507:g.5067del
Transcript Alleles
HGVS
Amino-acid change
ENST00000643006.1:c.-177del
ENSP00000496633.1:n.-177del
ENST00000649895.1:n.42del
ENST00000367435.3:c.-177del
ENSP00000356405.3:n.-177del
NM_024529.4:c.-177del , LRG_507t1:c.-177del
NP_078805.3:n.-177del
XR_001738350.1:n.1634del
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