Canonical Allele Identifier: PA157206
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 127471
ClinVar RCV Id: RCV000115277 RCV000120169 RCV000988648 RCV001262803 RCV002225327 RCV000586032 RCV001798328
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Ser333Phe
CA157204
NM_000051.4:c.998C>T