ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658674089
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000572582
RCV000699443
ClinVar Variation:
479088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly844Ala
CA6265056
NM_000051.4:c.2531G>C