ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673969
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453406
ClinVar RCV Id:
RCV000566119
RCV000552619
RCV000588042
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly724Ser
CA228397341
NM_000051.4:c.2170G>A