ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830141475
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_444255.3:p.Arg1765His
CA072986
NM_053027.4:c.5294G>A