ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580206940
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1763444
ClinVar RCV Id:
RCV002447542
RCV003776507
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val2819Ala
CA382517925
NM_001351834.2:c.8456T>C