ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279456
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Leu615Phe
CA279453
NM_001142301.1:c.1843C>T