ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530744
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2112541
ClinVar RCV Id:
RCV003026877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Asp110Val
CA181306950
NM_153704.6:c.329A>T