Canonical Allele Identifier: PA916037652
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102859
ClinVar RCV Id: RCV000089120 RCV001543637
ClinVar Variation Id: 551519
ClinVar RCV Id: RCV000666601
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Met276Ile
CA229799
NM_001354304.2:c.828G>T
CA386294546
NM_001354304.2:c.828G>C
CA386294547
NM_001354304.2:c.828G>A