ClinGen Allele Registry
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Canonical Allele Identifier:
PA279414
Gene: TMEM67
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
214276
ClinVar RCV:
RCV000201614
RCV002500631
RCV002517316
ClinVar Variation:
217710
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Met176Val
CA279411
NM_001142301.1:c.526A>G