Canonical Allele Identifier: PA1139738960
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 946015
ClinVar RCV Id: RCV001216789
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Met1916Ile
CA382547994
NM_001351834.2:c.5748G>T
CA382547995
NM_001351834.2:c.5748G>A
CA382547996
NM_001351834.2:c.5748G>C