ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825199671
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493988
RCV000714462
ClinVar Variation:
430135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly1137Asp
CA413847232
NM_000495.4:c.3410G>A