ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671237
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449519
ClinVar RCV Id:
RCV000519954
RCV001165120
RCV001165118
RCV001165119
RCV001333011
RCV001198569
RCV001797744
RCV002476053
RCV001857955
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Gly218Ala
CA4807740
NM_153704.6:c.653G>C