ClinGen Allele Registry
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Canonical Allele Identifier:
PA091796
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
180457
ClinVar RCV:
RCV000159765
RCV000206187
RCV000220574
RCV003467242
ClinVar Variation:
181996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1465Pro
CA298357
NM_000051.4:c.4394T>C