Canonical Allele Identifier: PA916037478
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102703
ClinVar RCV Id: RCV000088951 RCV000148722
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asn167Ser
CA229585
NM_001354304.2:c.500A>G
CA2837240917
NM_001354304.2:c.500_504delinsGCTAT