Canonical Allele Identifier: PA916037485
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102715
ClinVar RCV Id: RCV000088963 RCV001048510
ClinVar Variation Id: 944625
ClinVar RCV Id: RCV001215065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.His170Gln
CA229597
NM_001354304.2:c.510T>A
CA6748900
NM_001354304.2:c.510T>G