ClinGen Allele Registry
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Canonical Allele Identifier:
PA916034498
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
397897
ClinVar RCV:
RCV000474353
RCV000485307
RCV000565171
ClinVar Variation:
407490
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ile2606Met
CA16613132
NM_001351834.2:c.7818A>G