ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037815
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102546
ClinVar RCV Id:
RCV000088780
RCV001789755
RCV003323399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Asp394Ala
CA229372
NM_001354304.2:c.1181A>C