ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105408
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102545
ClinVar RCV Id:
RCV000088779
RCV000714571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp394His
CA229371
NM_000277.3:c.1180G>C