ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106034
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000089076
RCV000153634
ClinVar Variation:
102821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Leu249Phe
CA273356
NM_000277.3:c.745C>T