ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA286170
Gene: COL3A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
107041
ClinVar RCV:
RCV000087533
ClinVar Variation:
101295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000081.1:p.Gly249Val
CA007357
NM_000090.3:c.746G>T