ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031325
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000115201
RCV000569717
RCV000627997
RCV001854547
RCV003459313
ClinVar Variation:
127396
481115
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Glu166Asp
CA286864
NM_001351834.2:c.498A>C
CA6264625
NM_001351834.2:c.498A>T