ClinGen Allele Registry
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Canonical Allele Identifier:
PA279517
Gene: TMEM67
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214275
ClinVar RCV:
RCV000201733
ClinVar Variation:
217716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Thr163Ala
CA279514
NM_001142301.1:c.487A>G