ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139741915
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188933
ClinVar RCV Id:
RCV000169302
RCV000186077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Phe39del
CA229364
NM_001354304.2:c.116_118del