ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827630217
Gene: ATM
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
180382
ClinVar RCV:
RCV000159724
RCV000229615
RCV000445811
RCV000764933
RCV001175058
ClinVar Variation:
181957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338764.1:p.Gln95Lys
CA298245
NM_001351835.2:c.283C>A