ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580566717
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2495488
ClinVar RCV Id:
RCV003213606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Glu265Lys
CA379127168
NM_199292.3:c.793G>A