ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037561
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102784
ClinVar RCV Id:
RCV000089035
RCV000411829
RCV003398705
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Val230Ile
CA286506
NM_001354304.2:c.688G>A