ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298259
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181961
ClinVar RCV Id:
RCV000159728
RCV000196470
RCV000515177
RCV000589456
RCV001257475
RCV003321521
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1590Phe
CA298257
NM_000051.4:c.4768C>T