ClinGen Allele Registry
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Canonical Allele Identifier:
PA916032571
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229707
ClinVar RCV Id:
RCV000214272
RCV000671975
RCV001546529
RCV003153495
RCV003468979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1064Val
CA6265222
NM_001351834.2:c.3190A>G