ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915978996
Gene: MYO5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135967.2:p.Arg826His
CA7568684
NM_001142495.2:c.2477G>A