ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286962
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127435
ClinVar RCV Id:
RCV000115240
RCV000206376
RCV000590099
RCV000855568
RCV004549568
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2333Ile
CA286960
NM_000051.4:c.6998C>T