ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829547287
Gene: ECM1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004416.2:p.Thr130Met
CA1077443
NM_004425.4:c.389C>T