ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645503195
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231669
ClinVar RCV Id:
RCV000219062
RCV000485146
RCV000544430
RCV001818530
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr1819Ile
CA6265701
NM_000051.4:c.5456C>T