ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139720639
Gene: MATN3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002372.1:p.Glu172Lys
CA43403860
NM_002381.5:c.514G>A