ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138140
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001199983
ClinVar Variation:
932258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Thr323Ile
CA16020906
NM_000277.3:c.968C>T