ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA286869
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127397
ClinVar RCV Id:
RCV000115202
RCV000206394
RCV000561604
RCV001171473
RCV002490773
RCV003315637
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala1670Val
CA286867
NM_000051.4:c.5009C>T