ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279436
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217718
ClinVar RCV Id:
RCV000201638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.His709Asn
CA279433
NM_001142301.1:c.2125C>A