ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440445
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000408497
ClinVar Variation:
236105
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ile1272Thr
CA10602434
NM_000350.3:c.3815T>C