ClinGen Allele Registry
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Canonical Allele Identifier:
PA286725
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115139
RCV000211940
RCV000231946
RCV001030450
RCV001358550
RCV001719857
RCV003153366
RCV003315633
RCV003492452
ClinVar Variation:
127335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His42Arg
CA286723
NM_000051.4:c.125A>G