ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573060616
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199718
ClinVar RCV Id:
RCV000181079
RCV000465133
RCV000778019
RCV004537521
RCV002478603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Asn389Tyr
CA004110
NM_000090.4:c.1165A>T