ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827627402
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433307
ClinVar RCV Id:
RCV000499109
RCV001857045
RCV002489227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Arg1000Cys
CA7925604
NM_001351800.1:c.2998C>T