ClinGen Allele Registry
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Canonical Allele Identifier:
PA144438
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56764
ClinVar RCV Id:
RCV000050177
RCV000430117
RCV001804788
RCV001853069
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Arg359Gln
CA144435
NM_001142301.1:c.1076G>A