ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916032758
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
141117
ClinVar RCV Id:
RCV000129482
RCV000482081
RCV000529913
RCV001193060
RCV003467109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Met1210Val
CA164516
NM_001351834.2:c.3628A>G