ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916054840
Gene: MCOLN2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694991.2:p.Val20Ile
CA927460
NM_153259.4:c.58G>A