ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033383
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421320
ClinVar RCV Id:
RCV000485988
RCV000546123
RCV000565111
RCV002481518
RCV003470569
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn1719Ser
CA6265636
NM_001351834.2:c.5156A>G