ClinGen Allele Registry
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Canonical Allele Identifier:
PA916037838
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000624
RCV000078508
RCV000150074
RCV002287315
RCV003398401
ClinVar Variation:
593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Tyr414Cys
CA114362
NM_001354304.2:c.1241A>G