ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA270132
Gene: RP1L1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000132696
RCV001857476
RCV003888569
ClinVar Variation:
143165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Arg79Cys
CA270131
NM_178857.5:c.235C>T