ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298353
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181994
ClinVar RCV Id:
RCV000159763
RCV000474326
RCV001290629
RCV002466454
RCV003225035
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1283Pro
CA298351
NM_000051.4:c.3848T>C