ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165773
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141557
ClinVar RCV Id:
RCV000130133
RCV000687430
RCV003441751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile2432Phe
CA165771
NM_000051.4:c.7294A>T