ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA227395
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000085810
ClinVar Variation:
99451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ile2113Met
CA227394
NM_000350.3:c.6339C>G