Canonical Allele Identifier: PA2830435345
Gene: TH HGNC NCBI

Linked Data

ClinVar Variation Id: 1913004
ClinVar RCV Id: RCV002593546

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_954987.2:p.Phe371Leu
CA379125954
NM_199293.3:c.1113C>G
CA379125955
NM_199293.3:c.1113C>A
CA379125960
NM_199293.3:c.1111T>C