ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830139814
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222741
ClinVar RCV Id:
RCV000208152
RCV002265686
RCV002503823
RCV002517400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444254.3:p.Arg1747His
CA072986
NM_053026.4:c.5240G>A