ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037802
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108274
ClinVar RCV:
RCV000088771
RCV000169306
RCV003162523
ClinVar Variation:
102538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Tyr386Cys
CA274152
NM_001354304.2:c.1157A>G