ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060720
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208865
ClinVar RCV Id:
RCV000201324
RCV000462828
RCV002500584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Glu704Lys
CA279199
NM_000090.4:c.2110G>A