ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037537
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089016
RCV000411219
RCV001192748
ClinVar Variation:
102766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Pro211Thr
CA229666
NM_001354304.2:c.631C>A