ClinGen Allele Registry
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Canonical Allele Identifier:
PA916031978
Gene: ATM
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001338763.1:p.Ser644Ter
NM_001351834.2:c.1930_1931insAGATAAGAGAAA...
NM_001351834.2:c.1931C>A
NM_001351834.2:c.1931C>G