ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA239159
Gene: AMPD3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193613
ClinVar RCV Id:
RCV000173720
RCV001105108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000471.1:p.Ser491Leu
CA239157
NM_000480.3:c.1472C>T