ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294424
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152217
ClinVar RCV:
RCV000131651
RCV000204695
RCV000211988
RCV000780917
RCV001358229
RCV002291569
ClinVar Variation:
142503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr935Met
CA294422
NM_000051.4:c.2804C>T