ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827105190
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002313441
ClinVar Variation:
519999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308238.1:p.Val1723Met
CA354228503
NM_001321309.2:c.5167G>A