ClinGen Allele Registry
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Canonical Allele Identifier:
PA105860
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
108456
ClinVar RCV:
RCV000088968
RCV000675155
ClinVar Variation:
102720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ile174Val
CA229603
NM_000277.3:c.520A>G