ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453228
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363922
ClinVar RCV Id:
RCV000262960
RCV000318190
RCV000372722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Tyr567Ser
CA10631755
NM_153704.6:c.1700A>C