Canonical Allele Identifier: PA279457
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 217729
ClinVar RCV Id: RCV000201654 RCV001307480 RCV001161723 RCV001163244 RCV001804938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_714915.3:p.Leu696Phe
CA279453
NM_153704.6:c.2086C>T