ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105754
Gene: MCOLN1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065394.1:p.Arg403Cys
NM_020533.3:c.1207C>T