ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298190
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159702
RCV000474750
RCV000567796
RCV001711426
RCV003492638
RCV004551372
ClinVar Variation:
181936
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gln912Arg
CA298188
NM_000051.4:c.2735A>G