Canonical Allele Identifier: PA106838
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102810
ClinVar RCV Id: RCV000089063 RCV000340479
ClinVar Variation Id: 2503911
ClinVar RCV Id: RCV003230902
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Val245Leu
CA229724
NM_000277.3:c.733G>C
CA386295775
NM_000277.3:c.733G>T
CA2580614529
NM_000277.3:c.733_735delinsCTA