Canonical Allele Identifier: PA916032554
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407698
ClinVar RCV Id: RCV000457620 RCV000567038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001338763.1:p.Leu1049Phe
CA16613319
NM_001351834.2:c.3147G>T
CA382515369
NM_001351834.2:c.3147G>C