ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279560
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217722
ClinVar RCV Id:
RCV000201774
RCV001753605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Phe861Cys
CA279557
NM_001142301.1:c.2582T>G