ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827627049
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000499295
RCV001851389
ClinVar Variation:
433243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Arg486Cys
CA7926154
NM_001351800.1:c.1456C>T