ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658808874
Gene: P3H1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000645494
RCV001097773
RCV001672913
RCV003905744
ClinVar Variation:
536818
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_071751.3:p.Arg501Trp
CA801815
NM_022356.4:c.1501C>T