Canonical Allele Identifier: PA891845385
Gene: ATM HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Asp2720His
CA382562467
NM_000051.4:c.8158G>C