ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034416
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140910
ClinVar RCV Id:
RCV000129166
RCV000195721
RCV000656762
RCV001192416
RCV003460890
RCV004551240
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met2531Thr
CA293988
NM_001351834.2:c.7592T>C