ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684914
Gene: COL17A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
879945
ClinVar RCV Id:
RCV001107867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Arg1260Cys
CA5677807
NM_000494.4:c.3778C>T