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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:
PA2826120967
Gene: ATR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3221248
ClinVar RCV Id:
RCV004508101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001175.2:p.Glu2103Lys
CA354805543
NM_001184.4:c.6307G>A