ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105110
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089055
RCV000576386
RCV003343638
ClinVar Variation:
102804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg241His
CA286507
NM_000277.3:c.722G>A