ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580424172
Gene: MCOLN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2197603
ClinVar RCV Id:
RCV002637824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065394.1:p.Arg270Gln
CA403084578
NM_020533.3:c.809G>A