ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645395662
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
304077
ClinVar RCV Id:
RCV000289936
RCV000861197
RCV003930285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Ile240Met
CA5818574
NM_199292.3:c.720C>G