Canonical Allele Identifier: PA2741867142
Gene: PAH HGNC NCBI
ClinVar Allele:
2856848
ClinVar RCV:
RCV003496251
ClinVar Variation:
2705711
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341233.1:p.Arg270_Ser273del
CA2697551513
NM_001354304.2:c.809_820del