ClinGen Allele Registry
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Canonical Allele Identifier:
PA645500988
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000466846
RCV000572358
RCV000679103
RCV002298598
ClinVar Variation:
407579
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg832Leu
CA6265050
NM_000051.4:c.2495G>T