ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061064
Gene: COL3A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263987
ClinVar RCV Id:
RCV002503960
RCV003995704
RCV001183768
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Ser934Leu
CA10587533
NM_000090.4:c.2801C>T