ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825843013
Gene: TMEM67
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2921894
ClinVar RCV Id:
RCV003782916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Met171Val
CA371687773
NM_001142301.1:c.511A>G