ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060638
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
459760
ClinVar RCV Id:
RCV000539012
RCV001179628
RCV002473049
RCV003488667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Glu433Lys
CA62595677
NM_000090.4:c.1297G>A