ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031548
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407650
ClinVar RCV Id:
RCV000461531
RCV002379444
RCV003470433
RCV004551524
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val320Met
CA16613057
NM_001351834.2:c.958G>A