Canonical Allele Identifier: PA239464
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 193805
ClinVar RCV Id: RCV000173991
ClinVar Variation Id: 1470778
ClinVar RCV Id: RCV001964349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000268.1:p.Tyr386His
CA239463
NM_000277.3:c.1156T>C
CA2573147924
NM_000277.3:c.1155_1156delinsGC