ClinGen Allele Registry
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Canonical Allele Identifier:
PA645440955
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236129
ClinVar RCV Id:
RCV000408555
RCV000441041
RCV000826133
RCV001074401
RCV002485455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Ala1773Val
CA957302
NM_000350.3:c.5318C>T