ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA229714
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102801
ClinVar RCV Id:
RCV000089052
RCV000667600
RCV002514546
RCV004525872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Phe240Val
CA229713
NM_000277.3:c.718T>G