ClinGen Allele Registry
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Canonical Allele Identifier:
PA206575
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132836
ClinVar RCV:
RCV000115184
RCV000168271
RCV000193232
RCV000656759
RCV001354169
RCV003492456
RCV004549549
ClinVar Variation:
127379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1354Thr
CA206573
NM_000051.4:c.4060C>A