ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139715484
Gene: PURA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
986128
ClinVar RCV Id:
RCV001267380
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005850.1:p.Leu195His
CA361491083
NM_005859.5:c.584T>A