ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830435211
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1505895
ClinVar RCV Id:
RCV001999635
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Val302Ile
CA5818478
NM_199293.3:c.904G>A