ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286802
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
132825
ClinVar RCV:
RCV000115173
RCV000198992
RCV000515352
RCV000589242
RCV001260261
RCV001357199
RCV002225317
RCV004549546
ClinVar Variation:
127368
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Cys107Tyr
CA286800
NM_000051.4:c.320G>A