ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355280
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219787
ClinVar RCV Id:
RCV000204272
RCV000255601
RCV000574550
RCV001270952
RCV004547473
RCV003334385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Glu2039Lys
CA348515
NM_000051.4:c.6115G>A