ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037577
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102805
ClinVar RCV Id:
RCV000089056
RCV000688713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg241Leu
CA229716
NM_001354304.2:c.722G>T