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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:
PA2827878441
Gene: ATR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2003984
ClinVar RCV Id:
RCV002828146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341508.1:p.Gly1420Cys
CA354798163
NM_001354579.2:c.4258G>T