ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825137920
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1810384
ClinVar RCV Id:
RCV002509871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ala104Val
CA386304006
NM_000277.3:c.311C>T