ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827658
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Arg83Ser
CA381929241
NM_000260.4:c.247C>A