ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA204831
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127367
ClinVar RCV Id:
RCV000115172
RCV000211995
RCV000515253
RCV000465718
RCV000779787
RCV001249849
RCV003467024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Ala1059Thr
CA204829
NM_000051.4:c.3175G>A