ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319437
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.His122Asn
CA177366
NM_001369365.1:c.364C>A