ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741843374
Gene: ECM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001189787.1:p.Phe194Val
CA342333002
NM_001202858.2:c.580T>G