ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499299600
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Leu696Pro
CA371694104
NM_153704.6:c.2087T>C