ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830010686
Gene: ECM1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7476
ClinVar RCV Id:
RCV000007902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_073155.2:p.Phe167Ile
CA118819
NM_022664.3:c.499T>A