Canonical Allele Identifier: PA279436
Gene: TMEM67 HGNC NCBI
ClinVar RCV:
RCV000201638
ClinVar Variation:
217718
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001135773.1:p.His709Asn
CA279433
NM_001142301.1:c.2125C>A