ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916031395
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141543
ClinVar RCV Id:
RCV000130115
RCV000463431
RCV000480488
RCV003467132
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Asn206His
CA165723
NM_001351834.2:c.616A>C