ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034205
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
397882
ClinVar RCV:
RCV000463277
RCV000771628
ClinVar Variation:
407640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2367Ile
CA16613120
NM_001351834.2:c.7099G>A