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