ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916034580
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
453714
ClinVar RCV Id:
RCV000540134
RCV001805143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Pro2665Ala
CA382561783
NM_001351834.2:c.7993C>G