ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916031861
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186202
ClinVar RCV Id:
RCV000165751
RCV000486174
RCV000556946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met557Thr
CA194138
NM_001351834.2:c.1670T>C