ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294152
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141514
ClinVar RCV Id:
RCV000130079
RCV000168121
RCV000211983
RCV002288634
RCV003226209
RCV004551252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly844Glu
CA294150
NM_000051.4:c.2531G>A