ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057589572
Gene: ABCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005356684
ClinVar Variation:
3780470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Thr250Met
CA7926469
NM_001351800.1:c.749C>T