ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830010685
Gene: ECM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073155.2:p.Phe167Val
CA342333002
NM_022664.3:c.499T>G