Canonical Allele Identifier: PA916037587
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102810
ClinVar RCV Id: RCV000089063 RCV000340479
ClinVar Variation Id: 2503911
ClinVar RCV Id: RCV003230902
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Val245Leu
CA229724
NM_001354304.2:c.733G>C
CA386295775
NM_001354304.2:c.733G>T
CA2580614529
NM_001354304.2:c.733_735delinsCTA