ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032543
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3027
ClinVar RCV Id:
RCV000003166
RCV000116423
RCV000123734
RCV000203947
RCV000224788
RCV002225257
RCV001797989
RCV002221465
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1040Val
CA151920
NM_001351834.2:c.3118A>G