ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355625
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219462
ClinVar RCV Id:
RCV000205064
RCV000570407
RCV001785516
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1804Phe
CA349227
NM_000051.4:c.5410A>T