ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830434851
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526208
ClinVar RCV Id:
RCV000764964
RCV003343960
RCV001766340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Val178Ala
CA5818661
NM_199293.3:c.533T>C