ClinGen Allele Registry
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Canonical Allele Identifier:
PA645418372
Gene: COL3A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000081.1:p.Arg491Ter
NM_000090.3:c.1471C>T