ClinGen Allele Registry
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Canonical Allele Identifier:
PA645397583
Gene: COL17A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000247403
RCV000307690
RCV001582812
RCV001711544
ClinVar Variation:
256275
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000485.3:p.Asp1370Gly
CA5677717
NM_000494.4:c.4109A>G