Canonical Allele Identifier: PA916033826
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 186941
ClinVar RCV Id: RCV000166609 RCV000235567 RCV001205244
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Gln2066His
CA196294
NM_001351834.2:c.6198G>C
CA382550814
NM_001351834.2:c.6198G>T