ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829325718
Gene: COL4A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1366411
ClinVar RCV Id:
RCV001930122
RCV003487811
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001838.2:p.Gly1416Ser
CA10487231
NM_001847.4:c.4246G>A