ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503780
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231834
ClinVar RCV Id:
RCV000220079
RCV000477984
RCV000557855
RCV003469041
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2386Pro
CA10579251
NM_000051.4:c.7156G>C