ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828657993
Gene: MLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363410.1:p.Ser246Leu
CA253250
NM_001376481.1:c.737C>T