ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580544095
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2318410
ClinVar RCV Id:
RCV002910561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Pro476Leu
CA4625178
NM_178857.5:c.1427C>T