ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037523
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000089001
RCV000509208
RCV000588479
ClinVar Variation:
102752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.His201Tyr
CA229643
NM_001354304.2:c.601C>T