ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580237842
Gene: MYO5A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001369278.1:p.Val1323Ile
CA7568268
NM_001382349.1:c.3967G>A