ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573161247
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516442
ClinVar RCV Id:
RCV002026599
RCV003313263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Pro701Ala
CA62554476
NM_000090.4:c.2101C>G