ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502718
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233567
ClinVar RCV Id:
RCV000217705
RCV000779766
RCV000805982
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro1382Leu
CA6265409
NM_000051.4:c.4145C>T