ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105113
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102805
ClinVar RCV Id:
RCV000089056
RCV000688713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg241Leu
CA229716
NM_000277.3:c.722G>T