ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA091782
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
140823
ClinVar RCV Id:
RCV000129013
RCV000449587
RCV001090516
RCV003155920
RCV001657792
RCV001814064
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2016Gly
CA163663
NM_000051.4:c.6047A>G