ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034582
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000159752
RCV000628059
RCV001027026
RCV003467237
ClinVar Variation:
181984
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr2666Asn
CA298325
NM_001351834.2:c.7997C>A