Canonical Allele Identifier: PA332350
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 135771
ClinVar Variation Id: 489571
ClinVar Variation Id: 1466839
ClinVar RCV Id: RCV001990620

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe2140Leu
CA332348
NM_000051.4:c.6420C>A
CA15067465
NM_000051.4:c.6418T>C
CA382553490
NM_000051.4:c.6420C>G