Canonical Allele Identifier: PA2742023221
Gene: RP1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3028047
ClinVar RCV Id: RCV003889417

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_849188.4:p.Ser435Arg
CA4625230
NM_178857.5:c.1305T>G
CA370295769
NM_178857.5:c.1305T>A
CA370295774
NM_178857.5:c.1303A>C