ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830435394
Gene: TH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000013117
ClinVar Variation:
12324
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954987.2:p.Gln408Lys
CA278129
NM_199293.3:c.1222C>A