ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830142869
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002347735
ClinVar Variation:
1749335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444256.3:p.Glu1791Val
CA82937498
NM_053028.4:c.5372A>T