ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825137987
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
987763
ClinVar RCV Id:
RCV001269060
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Glu183del
CA1139532590
NM_000277.3:c.543_545del