ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670150
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453657
ClinVar RCV Id:
RCV001025985
RCV000533148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala2354Val
CA382559026
NM_000051.4:c.7061C>T