ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729791
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926428
ClinVar RCV Id:
RCV001189023
RCV002252325
RCV002249772
RCV003500669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2636Ile
CA382561490
NM_001351834.2:c.7907C>T