Canonical Allele Identifier: PA114972
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 1377
ClinVar RCV Id: RCV000001444 RCV000234830 RCV000725926 RCV001158405 RCV001158406 RCV001085857 RCV001158404 RCV001198570 RCV001333012 RCV003488318 RCV004528064
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_714915.3:p.Ser320Cys
CA114968
NM_153704.6:c.958A>T