Canonical Allele Identifier: PA102641
Gene: TMEM67 HGNC NCBI
ClinVar Allele:
214286
ClinVar RCV:
RCV000201665
ClinVar Variation:
217708
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_714915.3:p.Phe637Leu
CA279471
NM_153704.6:c.1911C>A
CA371693285
NM_153704.6:c.1909T>C
CA371693291
NM_153704.6:c.1911C>G