ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825197340
Gene: COL17A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3147306
ClinVar RCV Id:
RCV004444659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Gly1335Cys
CA378065198
NM_000494.4:c.4003G>T