ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139695408
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
926096
ClinVar RCV Id:
RCV001188485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro1184Arg
CA349846623
NM_000090.4:c.3551C>G