ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355191
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219997
ClinVar RCV Id:
RCV000204053
RCV001281327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Cys173Arg
CA348322
NM_153704.6:c.517T>C