ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168506
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139482
ClinVar RCV:
RCV000122874
RCV000131631
RCV000237090
RCV001269134
RCV001798397
RCV002288612
RCV002483232
RCV003483488
ClinVar Variation:
135770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val2115Ile
CA168504
NM_000051.4:c.6343G>A