ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395664
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478105
ClinVar Variation:
422210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Ile250Thr
CA16619300
NM_199292.3:c.749T>C