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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:
CA2649624542
Gene: CDC73
HGNC
NCBI
Linked Data
gnomAD v4:
1-193122025-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.193122028del , CM000663.2:g.193122028del
GRCh38
NC_000001.10:g.193091158del , CM000663.1:g.193091158del
GRCh37
NC_000001.9:g.191357781del
NCBI36
NG_012691.1:g.5071del , LRG_507:g.5071del
Transcript Alleles
HGVS
Amino-acid change
ENST00000643006.1:c.-173del
ENSP00000496633.1:n.-173del
ENST00000649895.1:n.46del
ENST00000367435.3:c.-173del
ENSP00000356405.3:n.-173del
NM_024529.4:c.-173del , LRG_507t1:c.-173del
NP_078805.3:n.-173del
XR_001738350.1:n.1631del
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