ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114361
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
586
ClinVar RCV Id:
RCV000000616
RCV000000617
RCV000088868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Met1Val