ClinGen Allele Registry
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Canonical Allele Identifier:
PA286906
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132869
ClinVar RCV:
RCV000115217
RCV000167876
RCV000223979
RCV000515219
RCV000780923
RCV001293033
RCV003149795
ClinVar Variation:
127412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Val1941Leu
CA286904
NM_000051.4:c.5821G>C