Canonical Allele Identifier: PA2573206210
Gene: PAH HGNC NCBI
ClinVar Allele:
1685664
ClinVar RCV:
RCV002260486
ClinVar Variation:
1693227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Pro279Cys
CA645372267
NM_001354304.2:c.835_836delinsTG