ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA095436
Gene: COL4A5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
24630
ClinVar RCV Id:
RCV000021509
RCV000681895
RCV003894817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly1143Ser
CA258865
NM_000495.4:c.3427G>A