ClinGen Allele Registry
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Canonical Allele Identifier:
PA3077023439
Gene: COL17A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Thr939Asn
CA378067919
NM_000494.4:c.2816C>A