ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114976
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1382
ClinVar RCV Id:
RCV000001450
RCV000587331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Gly740Ser
CA114973
NM_001142301.1:c.2218G>A