ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658825242
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
552279
ClinVar RCV Id:
RCV000667507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Lys42del
CA658821284
NM_000277.3:c.124_126del