Canonical Allele Identifier: PA168702
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 142558
ClinVar RCV Id: RCV000131754
ClinVar Variation Id: 581696
ClinVar RCV Id: RCV000705604 RCV000773598 RCV002499273
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Phe652Leu
CA168700
NM_000051.4:c.1956T>G
CA382536721
NM_000051.4:c.1954T>C
CA382536752
NM_000051.4:c.1956T>A