Canonical Allele Identifier: PA645503744
Gene: ATM HGNC NCBI

Linked Data

ClinVar Variation Id: 407563
ClinVar RCV Id: RCV000458028 RCV001025830 RCV003226931 RCV003470422
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000042.3:p.Gln2314His
CA6266035
NM_000051.4:c.6942A>C
CA382557249
NM_000051.4:c.6942A>T