ClinGen Allele Registry
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Canonical Allele Identifier:
PA3067642593
Gene: COL3A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Gly213Glu
CA658683277
NM_000090.4:c.638_639delinsAA