ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA168655
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131724
RCV000199373
RCV000587454
RCV001705933
RCV003467183
RCV004551266
ClinVar Variation:
142535
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg1918Thr
CA168653
NM_000051.4:c.5753G>C