ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031422
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142522
ClinVar RCV Id:
RCV000131698
RCV000205199
RCV000211951
RCV000587384
RCV001257492
RCV004551265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Lys224Glu
CA294425
NM_001351834.2:c.670A>G