Canonical Allele Identifier: PA916037797
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102535
ClinVar RCV Id: RCV000088768 RCV001200006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Thr378Ser
CA229358
NM_001354304.2:c.1132A>T
CA386493244
NM_001354304.2:c.1133C>G