Canonical Allele Identifier: PA916037382
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 102618
ClinVar RCV Id: RCV000088860 RCV001199974
ClinVar Variation Id: 120269
ClinVar RCV Id: RCV000106350
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Asn61Lys
CA229471
NM_001354304.2:c.183C>G
CA267644
NM_001354304.2:c.183C>A