ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573306600
Gene: TMEM67
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714915.3:p.Cys615Tyr
CA4808119
NM_153704.6:c.1844G>A