ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037421
Gene: PAH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000000659
RCV000088892
RCV000675074
RCV003323344
RCV003914793
ClinVar Variation:
627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Leu98Ser
CA114368
NM_001354304.2:c.293T>C