Canonical Allele Identifier: PA2825034097
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 2761037
ClinVar RCV Id: RCV003500234

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Leu1850Phe
CA382545984
NM_000051.4:c.5550A>C
CA382545986
NM_000051.4:c.5550A>T