ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA208753
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
127366
ClinVar RCV Id:
RCV000115171
RCV000194529
RCV000515446
RCV000588986
RCV001079613
RCV001354960
RCV002291557
RCV004549545
RCV003492454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Asn1005Ser
CA208751
NM_000051.4:c.3014A>G