ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099454
Gene: MYO7A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000251.3:p.Glu1170Lys
NM_000260.4:c.3508G>A