ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580530786
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Arg549Ser
CA371691389
NM_153704.6:c.1645C>A