ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105563
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580
ClinVar RCV Id:
RCV000000610
RCV000078532
RCV003162201
RCV002512608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Glu280Lys
CA251525
NM_000277.3:c.838G>A