ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645417793
Gene: MCOLN1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065394.1:p.Gly6Cys
CA9138572
NM_020533.3:c.16G>T