ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229646
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000089003
RCV001543657
ClinVar Variation:
102754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Cys203Tyr
CA229645
NM_000277.3:c.608G>A