ClinGen Allele Registry
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Canonical Allele Identifier:
PA645441395
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000432926
RCV001074499
ClinVar Variation:
377409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Arg2106His
CA16044110
NM_000350.3:c.6317G>A