ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139680950
Gene: PNP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
964110
ClinVar RCV Id:
RCV001238261
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000261.2:p.Leu17Phe
CA389144193
NM_000270.4:c.49C>T