ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573309363
Gene: RP1L1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1685071
ClinVar RCV Id:
RCV002248163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_849188.4:p.Pro411Ser
CA370295916
NM_178857.5:c.1231C>T