ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA200632
Gene: TMEM67
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
190671
ClinVar RCV:
RCV000173581
RCV000860917
RCV000988093
RCV001704249
RCV002485119
RCV004539599
ClinVar Variation:
193507
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Val9Met
CA200630
NM_153704.6:c.25G>A