ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673473
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479094
ClinVar RCV Id:
RCV001357076
RCV000572348
RCV001356495
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Gly204Val
CA382528207
NM_000051.4:c.611G>T