ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA236426
Gene: COL4A4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
191312
ClinVar RCV Id:
RCV000171504
RCV000271269
RCV000246048
RCV000987043
RCV001262386
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000083.3:p.Val1327Met
CA236424
NM_000092.5:c.3979G>A