ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037455
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000088933
RCV001093509
ClinVar Variation:
102685
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Tyr154His
CA229557
NM_001354304.2:c.460T>C