ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645500149
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
233977
ClinVar RCV Id:
RCV000221670
RCV000706107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr543Ile
CA10579018
NM_000051.4:c.1628C>T