ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114972
Gene: TMEM67
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_714915.3:p.Ser320Cys
NM_153704.6:c.958A>T