Canonical Allele Identifier: PA144448
Gene: TMEM67 HGNC NCBI

Linked Data

ClinVar Variation Id: 56766
ClinVar RCV Id: RCV000050179
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_714915.3:p.Asp446His
CA144444
NM_153704.6:c.1336G>C