ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645499391
Gene: ATM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
407516
ClinVar RCV Id:
RCV000463100
RCV001011017
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000042.3:p.Leu442Phe
CA16613062
NM_000051.4:c.1324C>T