ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166574
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141840
ClinVar RCV Id:
RCV000130517
RCV000470886
RCV000994717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asp2725His
CA166572
NM_000051.4:c.8173G>C