ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395663
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374731
ClinVar RCV Id:
RCV000416269
RCV000518710
RCV001833508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Pro249Leu
CA5818544
NM_199292.3:c.746C>T