Canonical Allele Identifier: PA2825197265
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3147301
ClinVar RCV Id: RCV004444654
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000485.3:p.Arg1260His
CA5677805
NM_000494.4:c.3779G>A