ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916037497
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
631
ClinVar RCV Id:
RCV000000663
RCV000088974
RCV000346024
RCV001280536
RCV002251846
RCV002512614
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Arg176Leu
CA114371
NM_001354304.2:c.527G>T