ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286839
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127384
ClinVar RCV Id:
RCV000115189
RCV000777909
RCV000685464
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ile1441Met
CA286837
NM_000051.4:c.4323A>G