ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286716
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127331
ClinVar RCV Id:
RCV000590112
RCV000115135
RCV000464763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr380Asn
CA286714
NM_000051.4:c.1138T>A