ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827627563
Gene: ABCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000499363
ClinVar Variation:
433231
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Lys1180del
CA7925397
NM_001351800.1:c.3538_3540del