ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034817
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127459
ClinVar RCV Id:
RCV000115265
RCV000169354
RCV000212084
RCV001814061
RCV001197256
RCV003162536
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2832Cys
CA287019
NM_001351834.2:c.8494C>T