ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033801
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187481
ClinVar RCV Id:
RCV000167214
RCV000523725
RCV000628069
RCV003330526
RCV003483552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Tyr2049Asp
CA197753
NM_001351834.2:c.6145T>G