ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA229496
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102636
ClinVar RCV Id:
RCV000088880
RCV001857429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Glu78Lys
CA229495
NM_000277.3:c.232G>A