ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032933
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127379
ClinVar RCV Id:
RCV000168271
RCV000115184
RCV000193232
RCV000656759
RCV001354169
RCV004549549
RCV003492456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro1354Thr
CA206573
NM_001351834.2:c.4060C>A