ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060718
Gene: COL3A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001805462
RCV003633601
ClinVar Variation:
1332416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.2:p.Arg683Cys
CA349839909
NM_000090.4:c.2047C>T