ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825031732
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003466618
RCV003500854
ClinVar Variation:
2679710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro795Thr
CA382541033
NM_000051.4:c.2383C>A