ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138054
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1327557
ClinVar RCV Id:
RCV001789819
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro244Ser
CA16020848
NM_000277.3:c.730C>T