ClinGen Allele Registry
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Canonical Allele Identifier:
PA258648
Gene: COL4A5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
35844
ClinVar RCV:
RCV000021382
RCV001067665
ClinVar Variation:
24503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000486.1:p.Gly763Glu
CA258647
NM_000495.4:c.2288G>A