ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106369
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
589
ClinVar RCV Id:
RCV000000620
RCV000078534
RCV001265833
RCV003914790
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro281Leu
CA220589
NM_000277.3:c.842C>T