ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA157176
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133634
ClinVar RCV Id:
RCV000120159
RCV000130402
RCV000586791
RCV000168144
RCV001355591
RCV003325183
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr2640Ile
CA157174
NM_000051.4:c.7919C>T