Canonical Allele Identifier: PA1139694979
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17205
ClinVar RCV Id: RCV000018745 RCV000177438 RCV000395000 RCV000775991 RCV001588818 RCV001811188 RCV002276559 RCV002496406
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000081.2:p.Ala698Thr
CA004987
NM_000090.4:c.2092G>A