ClinGen Allele Registry
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Canonical Allele Identifier:
PA186976
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000162792
RCV000167875
RCV000478106
RCV001354530
RCV003479031
RCV004551382
ClinVar Variation:
183918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr1156Met
CA186974
NM_000051.4:c.3467C>T