ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091803
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000480686
RCV000566971
RCV000792087
RCV002307513
ClinVar Variation:
418777
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro2829Leu
CA16619259
NM_000051.4:c.8486C>T