ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037703
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102896
ClinVar RCV Id:
RCV000089159
RCV003474693
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Leu308Phe
CA229851
NM_001354304.2:c.922C>T