ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091807
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127403
ClinVar RCV Id:
RCV000115208
RCV000168297
RCV000220146
RCV003460805
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Thr1743Ile
CA286882
NM_000051.4:c.5228C>T