ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037369
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108335
ClinVar RCV:
RCV000088840
RCV001389300
ClinVar Variation:
102599
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Leu52Ser
CA229443
NM_001354304.2:c.155T>C