ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139742085
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
932276
ClinVar RCV Id:
RCV001200013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.His220Pro
CA16020832
NM_001354304.2:c.659A>C