ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916037399
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102632
ClinVar RCV Id:
RCV000088875
RCV000411181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ser70del
CA229490
NM_001354304.2:c.208_210del