ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645501287
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
234191
ClinVar RCV Id:
RCV000221056
RCV000487139
RCV001218202
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr915Asn
CA10579068
NM_000051.4:c.2744C>A