ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388766
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
361229
ClinVar RCV Id:
RCV000392401
RCV001796002
RCV003888856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Glu2070Val
CA4623417
NM_178857.5:c.6209A>T