ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031569
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127471
ClinVar RCV Id:
RCV000115277
RCV000120169
RCV000988648
RCV001262803
RCV002225327
RCV000586032
RCV001798328
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ser333Phe
CA157204
NM_001351834.2:c.998C>T