ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA286771
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127355
ClinVar RCV Id:
RCV000115160
RCV000168041
RCV000211984
RCV000767896
RCV000858203
RCV001354304
RCV004549542
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn870Asp
CA286769
NM_000051.4:c.2608A>G