ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913195087
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000758093
ClinVar Variation:
619148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Ser273Pro
CA16020866
NM_000277.3:c.817T>C