Canonical Allele Identifier: PA916037807
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102541
ClinVar RCV Id: RCV000088775 RCV001269277
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val388Leu
CA229366
NM_001354304.2:c.1162G>C
CA386493192
NM_001354304.2:c.1162G>T