ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286851
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000115195
RCV000206408
RCV000515407
RCV000588453
RCV001257473
RCV002225319
RCV002509222
RCV003492458
ClinVar Variation:
127390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu1472Val
CA286849
NM_000051.4:c.4414T>G