ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673404
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
460490
ClinVar RCV:
RCV000525165
RCV003278875
RCV003483654
ClinVar Variation:
453518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu145Arg
CA382525216
NM_000051.4:c.434T>G