Canonical Allele Identifier: PA2825125855
Gene: RS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371642
ClinVar RCV Id: RCV000409978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000321.1:p.Ala224_Ter225insArgCysLeuProGlnLeuGlyAlaCysGlnGlyValThrGlyThrGluArgAlaValGlyAspProLeuThrHisHisArgAspGlyGlnGlyTyrIleSerGlnSerAsnCysAsnCysSerAlaGly
CA16042048
NM_000330.3:c.673T>C
CA412370001
NM_000330.3:c.673T>A