ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501142
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
232001
ClinVar RCV Id:
RCV000215421
RCV000236914
RCV001221171
RCV002478797
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu857Val
CA10579062
NM_000051.4:c.2569C>G