ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828658265
Gene: MLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363411.1:p.Ser228Leu
CA253250
NM_001376482.1:c.683C>T