ClinGen Allele Registry
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Canonical Allele Identifier:
PA915979022
Gene: MYO5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001135967.2:p.Val1046Met
CA7568513
NM_001142495.2:c.3136G>A