Canonical Allele Identifier: PA645397580
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298688
ClinVar RCV Id: RCV000303490 RCV002520535 RCV002504049 RCV002520534
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000485.3:p.Gly1361Arg
CA5677721
NM_000494.4:c.4081G>A
CA378065014
NM_000494.4:c.4081G>C