ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138208
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693226
ClinVar RCV Id:
RCV002260485
RCV003478955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Val379Ala
CA6748738
NM_000277.3:c.1136T>C