ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA194140
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
186202
ClinVar RCV Id:
RCV000165751
RCV000486174
RCV000556946
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Met557Thr
CA194138
NM_000051.4:c.1670T>C