ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916032448
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187123
ClinVar RCV Id:
RCV000166813
RCV000230218
RCV000588819
RCV002271439
RCV003462227
RCV003491911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Val976Ala
CA196789
NM_001351834.2:c.2927T>C