Canonical Allele Identifier: PA645453150
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 363921
ClinVar RCV Id: RCV000275749 RCV000330820 RCV000366747 RCV002058748 RCV002523705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_714915.3:p.Ser504Tyr
CA4807990
NM_153704.6:c.1511C>A