ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3077715555
Gene: MMP13
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002418.1:p.His232Tyr
CA382229291
NM_002427.4:c.694C>T