ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091799
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000131698
RCV000205199
RCV000211951
RCV000587384
RCV001257492
RCV004551265
ClinVar Variation:
142522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Lys224Glu
CA294425
NM_000051.4:c.670A>G