ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645502277
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000221928
RCV000627863
RCV001770185
ClinVar Variation:
233974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1273Asp
CA10579122
NM_000051.4:c.3817A>G