ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915980756
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120652.1:p.Arg395Cys
CA6197402
NM_001127180.2:c.1183C>T