ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498954
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236798
ClinVar RCV Id:
RCV000227018
RCV000574680
RCV003224232
RCV003441806
RCV003463634
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Arg329Lys
CA6264714
NM_000051.4:c.986G>A