ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830435324
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
546656
ClinVar RCV Id:
RCV000658581
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Pro351Leu
CA379126102
NM_199293.3:c.1052C>T