ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499274118
Gene: PRPF8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1054116
ClinVar RCV:
RCV001376348
RCV003542343
ClinVar Variation:
1065709
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006436.3:p.His2309Leu
CA397562042
NM_006445.4:c.6926A>T