ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830142948
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002345055
ClinVar Variation:
1748726
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444259.1:p.Asp116Tyr
CA354228835
NM_053031.4:c.346G>T