ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916033507
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141271
ClinVar RCV Id:
RCV000129712
RCV000199250
RCV000590655
RCV001357265
RCV001030597
RCV004551247
RCV002307401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1830Val
CA164960
NM_001351834.2:c.5488A>G