ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916034304
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142211
ClinVar RCV Id:
RCV000131203
RCV000236663
RCV000230833
RCV003462010
RCV004551261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338763.1:p.Arg2443Gln
CA167770
NM_001351834.2:c.7328G>A