ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106134
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
608
ClinVar RCV Id:
RCV000000639
RCV000078511
RCV002512612
RCV003421890
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Leu48Ser
CA251539
NM_000277.3:c.143T>C