ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825138183
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1867394
ClinVar RCV:
RCV002509868
ClinVar Variation:
1810381
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Pro362Ser
CA6748745
NM_000277.3:c.1084C>T