ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139753204
Gene: MYLK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444253.3:p.Thr1892Ile
CA073177
NM_053025.4:c.5675C>T