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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:
PA2741866112
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2774151
ClinVar RCV Id:
RCV003585757
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Phe570Ile
CA382535252
NM_001351834.2:c.1708T>A