ClinGen Allele Registry
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Canonical Allele Identifier:
PA916076718
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
684462
ClinVar RCV Id:
RCV000844931
RCV004029248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Ala976Val
CA4624653
NM_178857.5:c.2927C>T