ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA335996
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216233
ClinVar RCV Id:
RCV000195852
RCV001357358
RCV001818483
RCV002408879
RCV003153470
RCV003325466
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn2603Ser
CA335994
NM_000051.4:c.7808A>G