ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828655408
Gene: MLC1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000024319
RCV000059741
RCV001826507
ClinVar Variation:
31622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363402.1:p.Ser69Leu
CA219962
NM_001376473.1:c.206C>T