ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279395
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217720
ClinVar RCV Id:
RCV000201590
RCV004528990
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Pro277Leu
CA279392
NM_001142301.1:c.830C>T