ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105996
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089018
RCV000671113
ClinVar Variation:
102768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Leu212Pro
CA229668
NM_000277.3:c.635T>C