ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA242112
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135773.1:p.Asp630Ala
CA242109
NM_001142301.1:c.1889A>C