Canonical Allele Identifier: PA157161
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 133630
ClinVar RCV Id: RCV000120154 RCV000131611 RCV001080465 RCV002225364 RCV003149825 RCV000710676 RCV003315729
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser2146Thr
CA157159
NM_000051.4:c.6437G>C