ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060725
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432085
ClinVar RCV Id:
RCV000497823
RCV001041011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Arg794His
CA349842540
NM_000090.4:c.2381G>A