ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830139572
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2577622
ClinVar RCV Id:
RCV003324959
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444254.3:p.Leu1469Met
CA354226952
NM_053026.4:c.4405C>A