ClinGen Allele Registry
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Canonical Allele Identifier:
PA192869
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
183295
ClinVar RCV:
RCV000165250
RCV000531059
RCV002273966
RCV003468736
ClinVar Variation:
185766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.His1568Tyr
CA192867
NM_000051.4:c.4702C>T