ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825114264
Gene: MYO5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000250.3:p.Val1299Ile
CA7568268
NM_000259.3:c.3895G>A