ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645504158
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231709
ClinVar RCV Id:
RCV000217815
RCV000235518
RCV000700670
RCV000764947
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Trp2638Gly
CA6266210
NM_000051.4:c.7912T>G