ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658811269
Gene: TH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526214
ClinVar RCV Id:
RCV001273893
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_954986.2:p.Asp5Asn
CA5818893
NM_199292.3:c.13G>A