ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA298039
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135776
ClinVar RCV Id:
RCV000122880
RCV000159644
RCV000588200
RCV001824286
RCV001250436
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2274Thr
CA298037
NM_000051.4:c.6820G>A