ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580566740
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2090085
ClinVar RCV Id:
RCV003020732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Ala332Ser
CA379126253
NM_199292.3:c.994G>T