ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828657703
Gene: MLC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363409.1:p.Tyr248Cys
CA412107693
NM_001376480.1:c.743A>G