ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2830271955
Gene: ADAMTS13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242806
ClinVar RCV Id:
RCV000241706
RCV000275338
RCV002055012
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620595.1:p.Gln417Glu
CA358426
NM_139026.6:c.1249C>G