ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645441173
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236144
ClinVar RCV Id:
RCV000408446
RCV000480932
RCV000763439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Leu2026Pro
CA10602410
NM_000350.3:c.6077T>C