ClinGen Allele Registry
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Canonical Allele Identifier:
PA645397542
Gene: COL17A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000252360
RCV000264886
RCV001589241
RCV001711656
ClinVar Variation:
256276
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Thr210Met
CA5679345
NM_000494.4:c.629C>T