ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106379
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102907
ClinVar RCV Id:
RCV000089171
RCV000409567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro314His
CA229867
NM_000277.3:c.941C>A