ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830142357
Gene: MYLK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444256.3:p.Cys1084Tyr
CA82940457
NM_053028.4:c.3251G>A