ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825030897
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1039782
ClinVar RCV Id:
RCV001343326
RCV002447411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Pro424Ala
CA382533401
NM_000051.4:c.1270C>G