ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580492484
Gene: MYLK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149109.1:p.Pro144Ser
CA9802919
NM_033118.4:c.430C>T