ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830142800
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
222741
ClinVar RCV Id:
RCV000208152
RCV002265686
RCV002503823
RCV002517400
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444256.3:p.Arg1696His
CA072986
NM_053028.4:c.5087G>A