ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139684939
Gene: COL17A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
879944
ClinVar RCV Id:
RCV001107866
RCV004032129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Ile1263Thr
CA5677804
NM_000494.4:c.3788T>C