ClinGen Allele Registry
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Canonical Allele Identifier:
PA916071665
Gene: RAPSN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000178236
RCV001313406
RCV003462285
ClinVar Variation:
197248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_116034.2:p.Ala246Val
CA275256
NM_032645.5:c.737C>T