ClinGen Allele Registry
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Canonical Allele Identifier:
PA270104
Gene: PRPF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143142
ClinVar RCV Id:
RCV000132667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036601.2:p.Asp184His
CA270103
NM_012469.4:c.550G>C