ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066555
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
433236
ClinVar RCV Id:
RCV000499243
RCV001475971
RCV002496919
RCV004527608
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001162.5:p.Val514Ile
CA7926273
NM_001171.6:c.1540G>A