ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286906
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127412
ClinVar RCV Id:
RCV000167876
RCV000115217
RCV000223979
RCV000515219
RCV000780923
RCV003149795
RCV001293033
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1941Leu
CA286904
NM_000051.4:c.5821G>C