ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037377
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92737
ClinVar RCV Id:
RCV000078515
RCV000721179
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Glu57Lys
CA220578
NM_001354304.2:c.169G>A