ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830139821
Gene: MYLK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444254.3:p.Ala1757Val
CA073013
NM_053026.4:c.5270C>T