ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498901
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424991
ClinVar RCV Id:
RCV000487981
RCV000579975
RCV000821980
RCV001171411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly301Ser
CA16621626
NM_000051.4:c.901G>A