ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645440531
Gene: ABCA4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
298239
ClinVar RCV Id:
RCV000306201
RCV000358611
RCV000345844
RCV000408394
RCV000603618
RCV001074568
RCV001098066
RCV001515591
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Met1419Thr
CA957663
NM_000350.3:c.4256T>C