Canonical Allele Identifier: PA645396041
Gene: RSPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 227052
ClinVar RCV Id: RCV000213462 RCV001651076 RCV001521656 RCV001795352
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_543136.1:p.Gly248Arg
CA10043755
NM_080860.4:c.742G>A
CA410362295
NM_080860.4:c.742G>C