ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825843316
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3179616
ClinVar RCV Id:
RCV004470450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Pro743Arg
CA371698946
NM_001142301.1:c.2228C>G