ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812297
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
530903
ClinVar RCV Id:
RCV000636959
RCV001591420
RCV001779030
RCV003338698
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Arg549Cys
CA4808035
NM_153704.6:c.1645C>T