Canonical Allele Identifier: PA2825347860
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 322840
ClinVar RCV Id: RCV000339986 RCV000403908 RCV000996452 RCV002522939 RCV002521103
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001026851.2:p.Met148Ile
CA8291713
NM_001031681.3:c.444G>A
CA397690813
NM_001031681.3:c.444G>C
CA397690814
NM_001031681.3:c.444G>T