ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827627221
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381638
ClinVar RCV Id:
RCV000418691
RCV000499152
RCV004529573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Arg693Gln
CA7925918
NM_001351800.1:c.2078G>A