ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355508
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220064
ClinVar RCV Id:
RCV000204776
RCV000567581
RCV003477687
RCV004547478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Tyr2627Cys
CA348974
NM_000051.4:c.7880A>G