ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032393
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142503
ClinVar RCV Id:
RCV000131651
RCV000204695
RCV000211988
RCV000780917
RCV001358229
RCV002291569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr935Met
CA294422
NM_001351834.2:c.2804C>T