ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031269
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000575108
RCV001348023
ClinVar Variation:
478939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn133Ser
CA382524935
NM_001351834.2:c.398A>G