ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916003030
Gene: AMPD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
183289
ClinVar RCV Id:
RCV000162110
RCV002515123
RCV003984820
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004028.4:p.Arg486Gln
CA249914
NM_004037.9:c.1457G>A