ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057247260
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004596659
ClinVar Variation:
3255560
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Asn965Ile
CA341275330
NM_000350.3:c.2894A>T