ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138189
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1067076
ClinVar RCV Id:
RCV001378239
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro366Ser
CA386493310
NM_000277.3:c.1096C>T