ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037825
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108303
ClinVar RCV:
RCV000088801
RCV000758128
ClinVar Variation:
102567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ile406Thr
CA229398
NM_001354304.2:c.1217T>C