ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828658419
Gene: MLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68791
ClinVar RCV Id:
RCV000059743
RCV001831812
RCV003474653
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363412.1:p.Arg84Cys
CA219964
NM_001376483.1:c.250C>T