ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114595
Gene: UPK3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
873
ClinVar RCV Id:
RCV000000921
RCV001150740
RCV003415610
RCV003488317
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_008884.1:p.Pro273Leu
CA114594
NM_006953.4:c.818C>T