ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645479643
Gene: MMP13
HGNC
NCBI
Linked Data
ClinVar Variation Id:
301974
ClinVar RCV Id:
RCV000276220
RCV000370540
RCV000988628
RCV001054763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002418.1:p.Arg458Cys
CA6251674
NM_002427.4:c.1372C>T