ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397573
Gene: COL17A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Val1064Ile
CA5678078
NM_000494.4:c.3190G>A