ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033319
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
389279
ClinVar RCV Id:
RCV000434309
RCV002339077
RCV000817772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val1671Phe
CA16605809
NM_001351834.2:c.5011G>T