Canonical Allele Identifier: PA2825034232
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 946015
ClinVar RCV Id: RCV001216789

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Met1916Ile
CA382547994
NM_000051.4:c.5748G>T
CA382547995
NM_000051.4:c.5748G>A
CA382547996
NM_000051.4:c.5748G>C