ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645387985
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
361382
ClinVar RCV Id:
RCV000270861
RCV001355517
RCV002523617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Arg423Pro
CA4625244
NM_178857.5:c.1268G>C