ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828319887
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356294.1:p.Pro529His
CA6197533
NM_001369365.1:c.1586C>A