ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032690
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183918
ClinVar RCV Id:
RCV000162792
RCV000167875
RCV000478106
RCV001354530
RCV003479031
RCV004551382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Thr1156Met
CA186974
NM_001351834.2:c.3467C>T