ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658812311
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521968
ClinVar RCV Id:
RCV000624890
RCV000680126
RCV001821759
RCV001855314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Ala572Thr
CA371692274
NM_153704.6:c.1714G>A