ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106761
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
593
ClinVar RCV Id:
RCV000000624
RCV000078508
RCV000150074
RCV002287315
RCV003398401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Tyr414Cys
CA114362
NM_000277.3:c.1241A>G