ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573225427
Gene: MATN3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1347350
ClinVar RCV Id:
RCV002041643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002372.1:p.Lys253Glu
CA43403539
NM_002381.5:c.757A>G