ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037364
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629
ClinVar RCV Id:
RCV000000661
RCV000088836
RCV002512613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Gly46Ser
CA229439
NM_001354304.2:c.136G>A