ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037579
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089054
RCV000153635
ClinVar Variation:
102803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg241Cys
CA273357
NM_001354304.2:c.721C>T