ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139694516
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
872591
ClinVar RCV Id:
RCV001093158
RCV001806023
RCV001873461
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Arg428Gln
CA62595449
NM_000090.4:c.1283G>A