ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658661006
Gene: COL3A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.1:p.Glu448Lys
CA349851707
NM_000090.3:c.1342G>A