ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830127228
Gene: COL4A6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2811816
ClinVar RCV Id:
RCV003685099
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_378667.1:p.Ser1681Asn
CA413847935
NM_033641.4:c.5042G>A