ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298367
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181999
ClinVar RCV Id:
RCV000159768
RCV000218056
RCV000463126
RCV003462077
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala1942Val
CA298365
NM_000051.4:c.5825C>T