ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825843385
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392916
ClinVar RCV Id:
RCV000429127
RCV000984518
RCV002248661
RCV001851095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Val869Met
CA4808413
NM_001142301.1:c.2605G>A