ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032568
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127367
ClinVar RCV Id:
RCV000115172
RCV000211995
RCV000515253
RCV000465718
RCV000779787
RCV001249849
RCV003467024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Ala1059Thr
CA204829
NM_001351834.2:c.3175G>A