ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580267484
Gene: MMP13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1718547
ClinVar RCV Id:
RCV002299872
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002418.1:p.Glu78Lys
CA382232727
NM_002427.4:c.232G>A