ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671236
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461772
ClinVar RCV Id:
RCV000542172
RCV002245001
RCV002476130
RCV003488671
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Arg213His
CA4807723
NM_153704.6:c.638G>A