ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037755
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108213
ClinVar RCV:
RCV000088708
RCV001194126
ClinVar Variation:
102477
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Tyr343Cys
CA229282
NM_001354304.2:c.1028A>G