ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828655749
Gene: MLC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4714
ClinVar RCV Id:
RCV000004979
RCV001380081
RCV003155016
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363403.1:p.Ser93Leu
CA340283
NM_001376474.1:c.278C>T