ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645397585
Gene: COL17A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298683
ClinVar RCV Id:
RCV000294672
RCV000898639
RCV003940127
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Ala1435Val
CA5677630
NM_000494.4:c.4304C>T