ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA105918
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
618
ClinVar RCV Id:
RCV000000649
RCV000089157
RCV000169485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ile306Val
CA114365
NM_000277.3:c.916A>G