ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573062330
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1307756
ClinVar RCV Id:
RCV001772611
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ile777Asn
CA341277760
NM_000350.3:c.2330T>A