ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139728038
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987753
ClinVar RCV Id:
RCV001269041
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala389Gly
CA16020955
NM_001354304.2:c.1166C>G